R28G (p.Arg28Gly) variant of XPC (Q01831)
R28G (p.Arg28Gly) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- ExAC rs746994711
- TOPMed rs746994711
- gnomAD rs746994711
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available