Q53H (p.Gln53His) variant of ITGA6 (Integrin alpha-6)
Q53H (p.Gln53His) 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.
Q53H (p.Gln53His) variant details
- p.Gln53His
- gnomAD 2-172427947-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available