RPRD2 — 159 ClinVar variants

All ClinVar germline RPRD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

1 Benign · 8 Likely benign · 150 Uncertain significance

Full RPRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 116

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 32

The independent predictors disagree with each other — read with care.

All RPRD2 variants

Benign 1

p.Glu195= Multiple submitters

Likely benign 8

p.Ala1051Thr Single submitter
p.Ala982= Single submitter
p.Glu1169= Single submitter
p.Ile717Val Single submitter
p.Pro1448= Single submitter
p.Pro584Ser Single submitter
p.Ser1241= Single submitter
p.Ser761= Single submitter

Uncertain significance 150

p.Ala1083Ser Single submitter ⚠
p.Ala1145Pro Single submitter ⚠
p.Ala1149Val Single submitter ⚠
p.Ala1165Val Single submitter ⚠
p.Ala1251Thr Single submitter ⚠
p.Ala140Val Single submitter ⚠
p.Ala442Pro Single submitter ⚠
p.Ala499Val Single submitter ⚠
p.Ala524Val Single submitter ⚠
p.Ala641Val Single submitter ⚠
p.Arg1062His Single submitter ⚠
p.Arg1121His Single submitter ⚠
p.Arg1170Gln Single submitter ⚠
p.Arg1182His Single submitter ⚠
p.Arg1355Gln Single submitter ⚠
p.Arg1364Cys Single submitter ⚠
p.Arg1415Gln Single submitter ⚠
p.Arg1415Pro Single submitter ⚠
p.Arg1418Gln Single submitter ⚠
p.Arg1418Leu Single submitter ⚠
p.Arg1418Pro Single submitter ⚠
p.Arg1424Gly Single submitter ⚠
p.Arg1454His Single submitter ⚠
p.Arg202Cys Single submitter ⚠
p.Arg366Cys Single submitter ⚠
p.Arg388Gly Single submitter ⚠
p.Arg388Thr Single submitter ⚠
p.Arg710His Single submitter ⚠
p.Arg726Gln Single submitter ⚠
p.Arg726Trp Single submitter ⚠
p.Arg729Gln Single submitter ⚠
p.Arg729Trp Single submitter ⚠
p.Arg768Gly Single submitter ⚠
p.Arg774Gly Single submitter ⚠
p.Arg780Gln Single submitter ⚠
p.Arg905Cys Single submitter ⚠
p.Arg905His Single submitter ⚠
p.Arg927Gln Single submitter ⚠
p.Asn1095Asp Single submitter ⚠
p.Asn1140Asp Single submitter ⚠
p.Asp1053Gly Single submitter ⚠
p.Asp1239Ala Single submitter ⚠
p.Asp1405His Single submitter ⚠
p.Asp258His Single submitter ⚠
p.Asp835Glu Single submitter ⚠
p.Cys416Arg Single submitter ⚠
p.Cys416Tyr Single submitter ⚠
p.Gln1354His Single submitter ⚠
p.Gln206Glu Single submitter ⚠
p.Gln613Glu Single submitter ⚠
p.Glu1200Asp Single submitter ⚠
p.Glu1314Gln Single submitter ⚠
p.Glu994Lys Single submitter ⚠
p.Gly1135Ser Single submitter ⚠
p.Gly1202Arg Single submitter ⚠
p.Gly1350Arg Single submitter ⚠
p.Gly1351Cys Single submitter ⚠
p.Gly1359Asp Single submitter ⚠
p.Gly1384Glu Single submitter ⚠
p.Gly1446Ser Single submitter ⚠
p.Gly264Arg Single submitter ⚠
p.Gly773Arg Single submitter ⚠
p.Gly914Cys Single submitter ⚠
p.Gly953Glu Single submitter ⚠
p.His1025Tyr Single submitter ⚠
p.His1223Asn Single submitter ⚠
p.His1434Asn Single submitter ⚠
p.His944Gln Single submitter
p.Ile1007Thr Single submitter ⚠
p.Ile1412Arg Single submitter ⚠
p.Ile1412Lys Single submitter ⚠
p.Ile611Thr Single submitter ⚠
p.Ile720Thr Single submitter ⚠
p.Leu1148Phe Single submitter ⚠
p.Leu1362Phe Single submitter ⚠
p.Leu629Ser Single submitter ⚠
p.Met750Val Single submitter ⚠
p.Met846Val Single submitter ⚠
p.Phe827Ser Single submitter ⚠
p.Pro105Leu Single submitter
p.Pro1196Leu Single submitter ⚠
p.Pro1204Ser Single submitter ⚠
p.Pro1212Ser Single submitter ⚠
p.Pro1220His Single submitter ⚠
p.Pro1236Leu Single submitter ⚠
p.Pro1255Leu Single submitter ⚠
p.Pro1255Ser Single submitter ⚠
p.Pro1256Thr Single submitter ⚠
p.Pro1275Leu Single submitter ⚠
p.Pro1275Thr Single submitter ⚠
p.Pro1292Ala Single submitter ⚠
p.Pro1295Arg Single submitter ⚠
p.Pro1298Ser Single submitter ⚠
p.Pro1398Ala Single submitter ⚠
p.Pro1398Arg Single submitter ⚠
p.Pro1398Leu Single submitter ⚠
p.Pro1398Thr Single submitter ⚠
p.Pro163Leu Single submitter ⚠
p.Pro265Ser Single submitter ⚠
p.Pro506Leu Single submitter ⚠
p.Pro565Arg Single submitter ⚠
p.Pro643His Single submitter ⚠
p.Pro772Arg Single submitter ⚠
p.Pro779Leu Single submitter ⚠
p.Ser1144Gly Single submitter ⚠
p.Ser1177Gly Single submitter ⚠
p.Ser1214Pro Single submitter ⚠
p.Ser1241Leu Single submitter ⚠
p.Ser1363Gly Single submitter ⚠
p.Ser1368Asn Single submitter ⚠
p.Ser1394Thr Single submitter ⚠
p.Ser247Arg Single submitter ⚠
p.Ser266Leu Single submitter ⚠
p.Ser311Ala Single submitter ⚠
p.Ser356Tyr Single submitter ⚠
p.Ser399Tyr Single submitter ⚠
p.Ser512Pro Single submitter ⚠
p.Ser562Ala Single submitter ⚠
p.Ser655Cys Single submitter ⚠
p.Ser706Ala Single submitter ⚠
p.Ser744Cys Single submitter ⚠
p.Ser751Pro Single submitter ⚠
p.Ser787Phe Single submitter ⚠
p.Ser856Thr Single submitter ⚠
p.Ser908Tyr Single submitter ⚠
p.Ser956Gly Single submitter ⚠
p.Thr1003Ile Single submitter ⚠
p.Thr1050Ser Single submitter ⚠
p.Thr1052Ala Single submitter ⚠
p.Thr1245Ile Single submitter ⚠
p.Thr332Ala Single submitter ⚠
p.Thr350Ser Single submitter ⚠
p.Thr407Ala Single submitter ⚠
p.Thr426Ala Single submitter ⚠
p.Thr500Met Single submitter ⚠
p.Thr501Ala Single submitter ⚠
p.Thr502Ala Single submitter ⚠
p.Thr502Ile Single submitter ⚠
p.Thr502Pro Single submitter ⚠
p.Thr637Ser Single submitter ⚠
p.Thr743Ile Single submitter ⚠
p.Trp1128Gly Single submitter ⚠
p.Tyr778Cys Single submitter ⚠
p.Tyr876Cys Single submitter ⚠
p.Val1067Ile Single submitter ⚠
p.Val111Ala Single submitter ⚠
p.Val551Leu Single submitter ⚠
p.Val747Ile Single submitter ⚠
p.Val969Gly Single submitter ⚠
p.Val993Met Single submitter ⚠