G350V (p.Gly350Val) variant of TUBA1A (Tubulin alpha-1A chain)
G350V (p.Gly350Val) 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-associated dysgyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G350V (p.Gly350Val) variant details
- p.Gly350Val
- rs1942166930
- ClinGen CA384636614
- ClinVar RCV001095662
- ClinVar RCV001803226
- Pathogenic/Likely pathogenic
- Lissencephaly due to TUBA1A mutation; Tubulinopathy-associated dysgyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly due to TUBA1A mutation; Tubulinopathy-associated d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)