E57D (p.Glu57Asp) variant of ITGA6 (Integrin alpha-6)
E57D (p.Glu57Asp) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E57D (p.Glu57Asp) variant details
- p.Glu57Asp
- TOPMed rs1683925338
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 0.57
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available