E57G (p.Glu57Gly) variant of ITGA6 (Integrin alpha-6)
E57G (p.Glu57Gly) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- gnomAD 2-172427958-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available