S18N (p.Ser18Asn) variant of XPC (Q01831)
S18N (p.Ser18Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- Ensembl rs1457687972
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.01
- CADD 8.98
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available