V118M (p.Val118Met) variant of TUBA1A (Tubulin alpha-1A chain)
V118M (p.Val118Met) 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 Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- rs863224938
- ClinGen CA279027
- ClinVar RCV000199824
- ClinVar RCV000767513
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provided
- 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/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)