CASP8AP2 — 270 ClinVar variants

All ClinVar germline CASP8AP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

18 Likely benign · 252 Uncertain significance

Full CASP8AP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CASP8AP2 variants

Likely benign 18

p.Arg964Gln Single submitter
p.Asn1727Ser Single submitter
p.Glu1581Asp Single submitter
p.Ile585Val Single submitter
p.Ile768Val Single submitter
p.Ile776Val Single submitter
p.Ile791Val Single submitter
p.Met598Val Single submitter
p.Met668Val Single submitter
p.Pro877Ser Single submitter
p.Pro929Ser Single submitter
p.Ser597Leu Single submitter
p.Thr500Ala Single submitter
p.Val1209Leu Single submitter
p.Val1432Ile Single submitter
p.Val1684Ile Single submitter
p.Val716Ile Single submitter
p.Val792Asp Single submitter

Uncertain significance 252

p.Ala1030Ser Single submitter
p.Ala1518Asp Single submitter
p.Ala1731Thr Single submitter
p.Ala1748Asp Single submitter
p.Ala1779Gly Single submitter
p.Ala1884Val Single submitter
p.Ala19Gly Single submitter
p.Ala453Val Single submitter
p.Ala617Pro Single submitter
p.Ala618Val Single submitter
p.Ala868Val Single submitter
p.Arg1043Gln Single submitter
p.Arg1118His Single submitter
p.Arg1515Gln Single submitter
p.Arg1515Leu Single submitter
p.Arg1547His Single submitter
p.Arg1784Ser Single submitter
p.Arg1836Thr Single submitter
p.Arg229Leu Single submitter
p.Arg244Gly Single submitter
p.Arg257Thr Single submitter
p.Arg263Gln Single submitter
p.Arg317Cys Single submitter
p.Arg334Gln Single submitter
p.Arg384Ser Single submitter
p.Arg412Lys Single submitter
p.Arg441Gly Single submitter
p.Arg707Lys Single submitter
p.Arg872Lys Single submitter
p.Arg957Ser Single submitter
p.Arg958Thr Single submitter
p.Arg964Trp Single submitter
p.Arg972Cys Single submitter
p.Asn135Ser Single submitter
p.Asn1526His Single submitter
p.Asn1681Ser Single submitter
p.Asn535Ser Single submitter
p.Asn704Ser Single submitter
p.Asn782Asp Single submitter
p.Asn7Ser Single submitter
p.Asn873Thr Single submitter
p.Asn893Asp Single submitter
p.Asp1307Glu Single submitter
p.Asp1377Asn Single submitter
p.Asp1480Val Single submitter
p.Asp1641Gly Single submitter
p.Asp173Asn Single submitter
p.Asp178Asn Single submitter
p.Asp1810Asn Single submitter
p.Asp184Val Single submitter
p.Asp1890Ala Single submitter
p.Asp249Tyr Single submitter
p.Asp249Val Single submitter
p.Asp26Glu Single submitter
p.Asp336His Single submitter
p.Asp730Ala Single submitter
p.Asp735Asn Single submitter
p.Asp917Val Single submitter
p.Cys1587Phe Single submitter
p.Cys1713Tyr Single submitter
p.Cys1805Tyr Single submitter
p.Cys670Tyr Single submitter
p.Cys978Arg Single submitter
p.Gln1319Glu Single submitter
p.Gln1720Glu Single submitter
p.Gln1720His Single submitter
p.Glu1104Gly Single submitter
p.Glu1200Asp Single submitter
p.Glu1216Gly Single submitter
p.Glu1268Gly Single submitter
p.Glu1268Lys Single submitter
p.Glu1360Gln Single submitter
p.Glu1646Gln Single submitter
p.Glu1646Lys Single submitter
p.Glu1660Gln Single submitter
p.Glu1760Gln Single submitter
p.Glu325Asp Single submitter
p.Glu458Lys Single submitter
p.Glu503Asp Single submitter
p.Glu595Gln Single submitter
p.Glu654Gly Single submitter
p.Glu656Lys Single submitter
p.Glu671Gln Single submitter
p.Glu728Val Single submitter
p.Glu908Gly Single submitter
p.Glu952Gly Single submitter
p.Gly1387Cys Single submitter
p.Gly1638Ser Single submitter
p.Gly237Arg Single submitter
p.Gly271Asp Single submitter
p.Gly28Ala Single submitter
p.Gly292Ser Single submitter
p.Gly745Ala Single submitter
p.Gly81Ala Single submitter
p.His1086Arg Single submitter
p.His1257Arg Single submitter
p.His1476Tyr Single submitter
p.His1612Gln Single submitter
p.His1651Asn Single submitter
p.His1830Arg Single submitter
p.His190Arg Single submitter
p.His190Tyr Single submitter
p.His252Arg Single submitter
p.His332Tyr Single submitter
p.His443Asn Single submitter
p.His824Gln Single submitter
p.His987Arg Single submitter
p.Ile1025Met Single submitter
p.Ile1103Leu Single submitter
p.Ile1103Val Single submitter
p.Ile1115Met Single submitter
p.Ile1233Met Single submitter
p.Ile1239Ser Single submitter
p.Ile1239Val Single submitter
p.Ile1244Val Single submitter
p.Ile1272Val Single submitter
p.Ile1291Val Single submitter
p.Ile1354Val Single submitter
p.Ile1585Met Single submitter
p.Ile1662Thr Single submitter
p.Ile1701Leu Single submitter
p.Ile1708Val Single submitter
p.Ile1839Phe Single submitter
p.Ile446Thr Single submitter
p.Ile446Val Single submitter
p.Ile648Val Single submitter
p.Ile791Thr Single submitter
p.Ile857Val Single submitter
p.Leu1150Phe Single submitter
p.Leu1382Val Single submitter
p.Leu1436Phe Single submitter
p.Leu1437Pro Single submitter
p.Leu164Phe Single submitter
p.Leu1706Ile Single submitter
p.Leu1829Trp Single submitter
p.Leu390Phe Single submitter
p.Leu538Phe Single submitter
p.Leu803Val Single submitter
p.Lys1145Glu Single submitter
p.Lys1147Arg Single submitter
p.Lys1148Glu Single submitter
p.Lys1212Glu Single submitter
p.Lys1213Arg Single submitter
p.Lys1230Asn Single submitter
p.Lys1284Arg Single submitter
p.Lys1339Thr Single submitter
p.Lys1350Gln Single submitter
p.Lys1688Arg Single submitter
p.Lys1695Arg Single submitter
p.Lys1749Glu Single submitter
p.Lys1775Glu Single submitter
p.Lys1877Thr Single submitter
p.Lys1882Glu Single submitter
p.Lys367Arg Single submitter
p.Lys373Gln Single submitter
p.Lys463Glu Single submitter
p.Lys472Asn Single submitter
p.Lys512Arg Single submitter
p.Lys552Thr Single submitter
p.Lys749Asn Single submitter
p.Lys93Gln Single submitter
p.Lys999Glu Single submitter
p.Met1039Val Single submitter
p.Met1463Thr Single submitter
p.Met1668Arg Single submitter
p.Met454Ile Single submitter
p.Met540Arg Single submitter
p.Met714Ile Single submitter
p.Pro1202Leu Single submitter
p.Pro1355Ser Single submitter
p.Pro1388Leu Single submitter
p.Pro1397Leu Single submitter
p.Pro1416Thr Single submitter
p.Pro1461Ser Single submitter
p.Pro1898Leu Single submitter
p.Pro327Thr Single submitter
p.Pro493Leu Single submitter
p.Pro573Arg Single submitter
p.Pro573Thr Single submitter
p.Pro673Leu Single submitter
p.Pro766Arg Single submitter
p.Pro784Thr Single submitter
p.Pro876Gln Single submitter
p.Pro892Leu Single submitter
p.Pro947Arg Single submitter
p.Pro970Leu Single submitter
p.Ser1018Asn Single submitter
p.Ser1021Thr Single submitter
p.Ser1183Arg Single submitter
p.Ser1225Gly Single submitter
p.Ser1249Pro Single submitter
p.Ser1306Gly Single submitter
p.Ser1334Asn Single submitter
p.Ser1465Cys Single submitter
p.Ser1504Gly Single submitter
p.Ser1507Gly Single submitter
p.Ser1672Ala Single submitter
p.Ser168Tyr Single submitter
p.Ser1721Arg Single submitter
p.Ser1728Cys Single submitter
p.Ser1745Thr Single submitter
p.Ser1746Asn Single submitter
p.Ser183Cys Single submitter
p.Ser1840Thr Single submitter
p.Ser1868Phe Single submitter
p.Ser253Asn Single submitter
p.Ser360Leu Single submitter
p.Ser51Pro Single submitter
p.Ser557Arg Single submitter
p.Ser743Cys Single submitter
p.Ser928Leu Single submitter
p.Ser983Gly Single submitter
p.Ser983Ile Single submitter
p.Thr1019Asn Single submitter
p.Thr1019Ile Single submitter
p.Thr1228Ile Single submitter
p.Thr1282Pro Single submitter
p.Thr1293Ser Single submitter
p.Thr1828Ile Single submitter
p.Thr1861Asn Single submitter
p.Thr223Ala Single submitter
p.Thr298Ser Single submitter
p.Thr326Asn Single submitter
p.Thr504Ser Single submitter
p.Thr697Ala Single submitter
p.Thr811Ile Single submitter
p.Thr819Ser Single submitter
p.Thr898Ala Single submitter
p.Thr986Ser Single submitter
p.Trp322Arg Single submitter
p.Tyr1176His Single submitter
p.Tyr1205His Single submitter
p.Tyr291Cys Single submitter
p.Tyr73His Single submitter
p.Val1203Ile Single submitter
p.Val1229Leu Single submitter
p.Val1425Ile Single submitter
p.Val1517Ala Single submitter
p.Val1532Ile Single submitter
p.Val159Ala Single submitter
p.Val1623Leu Single submitter
p.Val1623Phe Single submitter
p.Val1705Ala Single submitter
p.Val1759Leu Single submitter
p.Val1807Ile Single submitter
p.Val451Ala Single submitter
p.Val603Ala Single submitter
p.Val606Ile Single submitter
p.Val636Ile Single submitter
p.Val636Phe Single submitter
p.Val790Ile Single submitter
p.Val842Ile Single submitter