R28Q (p.Arg28Gln) variant of XPC (Q01831)
R28Q (p.Arg28Gln) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- gnomAD rs1390055937
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.14
- CADD 18.60
- PolyPhen-2 0.28
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available