G43A (p.Gly43Ala) variant of TUBA1A (Tubulin alpha-1A chain)
G43A (p.Gly43Ala) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- gnomAD 12-49186709-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.40
- MetaLR 0.60
- MetaSVM 0.05
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available
- Literature evidence available