V118L (p.Val118Leu) variant of TUBA1A (Tubulin alpha-1A chain)
V118L (p.Val118Leu) 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 TUBA1A-associated tubulinopathy; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V118L (p.Val118Leu) variant details
- p.Val118Leu
- rs863224938
- ClinGen CA384643090
- ClinVar RCV000767486
- ClinVar RCV003336173
- Pathogenic
- TUBA1A-associated tubulinopathy; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.85
- MetaLR 0.65
- MetaSVM 0.57
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.41
- ClinVar: Pathogenic (TUBA1A-associated tubulinopathy; Tubulinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)