A49T (p.Ala49Thr) variant of ITGA6 (Integrin alpha-6)
A49T (p.Ala49Thr) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- gnomAD 2-172427933-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 25.60
- PolyPhen-2 0.83
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available