A3V (p.Ala3Val) variant of ITGA6 (Integrin alpha-6)
A3V (p.Ala3Val) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 2-172427796-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available