E30A (p.Glu30Ala) variant of ITGA6 (Integrin alpha-6)
E30A (p.Glu30Ala) 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.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- gnomAD 2-172427877-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available