R28W (p.Arg28Trp) variant of XPC (Q01831)
R28W (p.Arg28Trp) 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 0.29 / 1. The record also includes population frequency data and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- ExAC rs746994711
- TOPMed rs746994711
- gnomAD rs746994711
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available