MLKL — 89 ClinVar variants

All ClinVar germline MLKL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

1 Conflicting · 5 Benign · 9 Likely benign · 74 Uncertain significance

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

⚑ Evidence disagreements 74

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MLKL p.Pro189Ser Conflicting Single submitter
biotinidase deficiency

Predictors lean, ClinVar uncertain 57

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

Predictors split 16

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

All MLKL variants

Conflicting classifications of pathogenicity 1

p.Pro189Ser Single submitter biotinidase deficiency ⚠

Benign 5

p.Asp100Glu Multiple submitters
p.Leu294= Multiple submitters
p.Lys234= Multiple submitters
p.Glu19Lys Single submitter
p.Met1Val Single submitter

Likely benign 9

p.Arg17Gln Single submitter
p.Arg319Trp Single submitter
p.Asp369Glu Single submitter
p.Glu418Lys Single submitter
p.His451Tyr Single submitter
p.Ile405= Single submitter
p.Leu377Ile Single submitter
p.Lys40Gln Single submitter
p.Pro411= Single submitter

Uncertain significance 74

p.Ala406Thr Single submitter ⚠
p.Ala450Val Single submitter ⚠
p.Arg121Leu Single submitter ⚠
p.Arg145Thr Single submitter ⚠
p.Arg306Cys Single submitter ⚠
p.Arg421Cys Single submitter ⚠
p.Arg428Gly Single submitter ⚠
p.Arg428Trp Single submitter ⚠
p.Arg442Gln Single submitter ⚠
p.Arg449Gln Single submitter ⚠
p.Arg64Cys Single submitter ⚠
p.Asn168Lys Single submitter ⚠
p.Asn168Thr Single submitter ⚠
p.Asn84Ser Single submitter ⚠
p.Asp100Gly Single submitter ⚠
p.Asp47Glu Single submitter ⚠
p.Asp94Asn Single submitter ⚠
p.Cys24Arg Single submitter ⚠
p.Cys24Gly Single submitter ⚠
p.Gln117His Single submitter ⚠
p.Gln135Glu Single submitter ⚠
p.Gln245Glu Single submitter ⚠
p.Glu156Gly Single submitter ⚠
p.Glu156Val Single submitter ⚠
p.Glu166Gln Single submitter ⚠
p.Glu440Lys Single submitter ⚠
p.Glu56Lys Single submitter ⚠
p.His451Arg Single submitter ⚠
p.Ile127Thr Single submitter ⚠
p.Ile172Met Single submitter ⚠
p.Ile242Thr Single submitter ⚠
p.Ile262Phe Single submitter ⚠
p.Ile270Asn Single submitter ⚠
p.Ile270Val Single submitter ⚠
p.Ile39Phe Single submitter ⚠
p.Leu10Arg Single submitter ⚠
p.Leu309Val Single submitter ⚠
p.Leu320Arg Single submitter ⚠
p.Leu338Val Single submitter ⚠
p.Leu45Val Single submitter ⚠
p.Lys233Glu Single submitter ⚠
p.Lys234Ile Single submitter ⚠
p.Lys40Arg Single submitter ⚠
p.Lys40Asn Single submitter ⚠
p.Lys78Glu Single submitter ⚠
p.Lys99Arg Single submitter ⚠
p.Met122Thr Single submitter ⚠
p.Met122Val Single submitter ⚠
p.Met307Val Single submitter ⚠
p.Phe232Leu Single submitter ⚠
p.Phe257Leu Single submitter ⚠
p.Phe65Leu Single submitter ⚠
p.Phe88Ile Single submitter ⚠
p.Pro205Leu Single submitter ⚠
p.Pro276Leu Single submitter ⚠
p.Pro379Arg Single submitter ⚠
p.Pro379His Single submitter ⚠
p.Pro411Leu Single submitter ⚠
p.Ser360Thr Single submitter ⚠
p.Ser378Leu Single submitter ⚠
p.Ser393Pro Single submitter ⚠
p.Ser467Phe Single submitter ⚠
p.Ser83Cys Single submitter ⚠
p.Thr216Pro Single submitter ⚠
p.Thr253Ser Single submitter inflammatory bowel disease ⚠
p.Thr275Asn Single submitter ⚠
p.Thr290Ile Single submitter ⚠
p.Tyr389Cys Single submitter ⚠
p.Tyr389His Single submitter ⚠
p.Tyr396His Single submitter ⚠
p.Val231Leu Single submitter ⚠
p.Val35Ile Single submitter ⚠
p.Val35Phe Single submitter ⚠
p.Val424Met Single submitter