R12G (p.Arg12Gly) variant of XPC (Q01831)
R12G (p.Arg12Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- ExAC rs758310257
- gnomAD rs758310257
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- CADD 22.10
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available