S104G (p.Ser104Gly) variant of XPC (Q01831)
S104G (p.Ser104Gly) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S104G (p.Ser104Gly) variant details
- p.Ser104Gly
- TOPMed rs1013843130
- gnomAD rs1013843130
- Missense
- Variant Prioritization Score for Impact Estimate 0.0762
- REVEL 0.05
- CADD 6.54
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available