R12W (p.Arg12Trp) variant of XPC (Q01831)
R12W (p.Arg12Trp) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- ExAC rs758310257
- gnomAD rs758310257
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.11
- CADD 23.70
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available