R19Q (p.Arg19Gln) variant of ITGA6 (Integrin alpha-6)
R19Q (p.Arg19Gln) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD 2-172427844-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available