R35Q (p.Arg35Gln) variant of ITGA6 (Integrin alpha-6)
R35Q (p.Arg35Gln) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- gnomAD 2-172427892-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available