R79C (p.Arg79Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R79C (p.Arg79Cys) 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; Lissencephaly type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- rs1555162507
- ClinGen CA384643745
- cosmic curated COSV10880
- ClinVar RCV003464069
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.95
- MetaLR 0.55
- MetaSVM 0.28
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.72
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available