V362L (p.Val362Leu) variant of TUBA1A (Tubulin alpha-1A chain)
V362L (p.Val362Leu) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
V362L (p.Val362Leu) variant details
- p.Val362Leu
- rs1942166073
- ClinGen CA384636202
- ClinVar RCV001257558
- Ensembl rs1942166073
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.86
- MetaLR 0.64
- MetaSVM 0.20
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.58
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)