V409A (p.Val409Ala) variant of TUBA1A (Tubulin alpha-1A chain)
V409A (p.Val409Ala) 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 not provided; Lissencephaly due to TUBA1A mutation; Tubulinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
V409A (p.Val409Ala) variant details
- p.Val409Ala
- rs797045005
- ClinGen CA213316
- ClinVar RCV000190503
- ClinVar RCV000492850
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly due to TUBA1A mutation; Tubulinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 0.45
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly due to TUBA1A mutation; Tubulinopath)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)