S46N (p.Ser46Asn) variant of XPC (Q01831)
S46N (p.Ser46Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- gnomAD rs1206773443
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.08
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available