V323M (p.Val323Met) variant of TUBA1A (Tubulin alpha-1A chain)
V323M (p.Val323Met) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Tubulinopathy-associated dysgyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
V323M (p.Val323Met) variant details
- p.Val323Met
- rs2121242709
- ClinGen CA384637722
- cosmic curated COSV10962
- ClinVar RCV001574456
- Pathogenic/Likely pathogenic
- not provided; Tubulinopathy-associated dysgyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.98
- MetaLR 0.70
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (not provided; Tubulinopathy-associated dysgyria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available