D46V (p.Asp46Val) variant of TUBA1A (Tubulin alpha-1A chain)
D46V (p.Asp46Val) 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 0.80 / 1. The record also includes published literature and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- rs2121248103
- ClinGen CA384645238
- ClinVar RCV001836670
- Ensembl rs2121248103
- Likely pathogenic
- Lissencephaly due to TUBA1A mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.90
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.55
- ClinVar: Likely pathogenic (Lissencephaly due to TUBA1A mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tubulinopathies Overview. (PMID 27010057)