S94N (p.Ser94Asn) variant of XPC (Q01831)
S94N (p.Ser94Asn) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S94N (p.Ser94Asn) variant details
- p.Ser94Asn
- ExAC rs763230547
- gnomAD rs763230547
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- CADD 17.60
- PolyPhen-2 0.15
- SIFT 0.08
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available