S94R (p.Ser94Arg) variant of XPC (Q01831)
S94R (p.Ser94Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
S94R (p.Ser94Arg) variant details
- p.Ser94Arg
- TOPMed rs1403858767
- gnomAD rs1403858767
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.16
- CADD 14.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available