V9A (p.Val9Ala) variant of TUBA1A (Tubulin alpha-1A chain)
V9A (p.Val9Ala) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Lissencephaly due to TUBA1A mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- rs1565627795
- ClinGen CA384646184
- ClinVar RCV001268107
- ClinVar RCV001797790
- Conflicting interpretations
- not provided; Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.62
- MetaLR 0.56
- MetaSVM 0.15
- PolyPhen-2 0.58
- SIFT 0.00
- MutPred 0.48
- ClinVar: Conflicting classifications of pathogenicity (not provided; Lissencephaly due to TUBA1A mutation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)