R2C (p.Arg2Cys) variant of TUBA1A (Tubulin alpha-1A chain)
R2C (p.Arg2Cys) 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 Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- rs1565627805
- cosmic curated COSV55498
- ClinVar RCV004595288
- Pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.99
- MetaLR 0.66
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.57
- ClinVar: Pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)