V235L (p.Val235Leu) variant of TUBA1A (Tubulin alpha-1A chain)
V235L (p.Val235Leu) 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 0.38 / 1. The record also includes published literature and structural context.
V235L (p.Val235Leu) variant details
- p.Val235Leu
- rs1565627190
- ClinGen CA384640545
- ClinVar RCV001329519
- Ensembl rs1565627190
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.90
- MetaLR 0.27
- MetaSVM -0.52
- PolyPhen-2 0.49
- SIFT 0.00
- MutPred 0.37
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)