C8R (p.Cys8Arg) variant of ITGA6 (Integrin alpha-6)
C8R (p.Cys8Arg) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- TOPMed rs1416564292
- gnomAD rs1416564292
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available