V182A (p.Val182Ala) variant of TUBA1A (Tubulin alpha-1A chain)
V182A (p.Val182Ala) 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 0.75 / 1. The record also includes published literature and structural context.
V182A (p.Val182Ala) variant details
- p.Val182Ala
- rs1942173367
- ClinGen CA384641839
- ClinVar RCV001254936
- Ensembl rs1942173367
- Pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.65
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.71
- ClinVar: Pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)