R29Q (p.Arg29Gln) variant of ITGA6 (Integrin alpha-6)
R29Q (p.Arg29Gln) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- TOPMed rs1460362399
- gnomAD rs1460362399
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.64
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available