A14S (p.Ala14Ser) variant of ITGA6 (Integrin alpha-6)
A14S (p.Ala14Ser) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 2-172427828-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available