R214C (p.Arg214Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R214C (p.Arg214Cys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Tubulinopathy; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
R214C (p.Arg214Cys) variant details
- p.Arg214Cys
- rs886044568
- ClinGen CA384641117
- NCI-TCGA Cosmic COSV5549
- cosmic curated COSV55498
- Conflicting interpretations
- Tubulinopathy; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.48
- MetaLR 0.53
- MetaSVM 0.15
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.53
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available