R422S (p.Arg422Ser) variant of TUBA1A (Tubulin alpha-1A chain)
R422S (p.Arg422Ser) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tubulinopathy-associated dysgyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
R422S (p.Arg422Ser) variant details
- p.Arg422Ser
- rs137853049
- ClinGen CA384633879
- cosmic curated COSV55498
- ClinVar RCV001803469
- Pathogenic
- Tubulinopathy-associated dysgyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.85
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.68
- ClinVar: Pathogenic (Tubulinopathy-associated dysgyria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available