M377V (p.Met377Val) variant of TUBA1A (Tubulin alpha-1A chain)
M377V (p.Met377Val) 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 Tubulinopathy; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
M377V (p.Met377Val) variant details
- p.Met377Val
- rs587784481
- ClinGen CA213252
- ClinVar RCV000147794
- ClinVar RCV000767443
- Likely pathogenic
- Tubulinopathy; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.74
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Tubulinopathy; Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)