A14E (p.Ala14Glu) variant of ITGA6 (Integrin alpha-6)
A14E (p.Ala14Glu) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- gnomAD 2-172427829-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 21.10
- PolyPhen-2 0.23
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available