S94G (p.Ser94Gly) variant of XPC (Q01831)
S94G (p.Ser94Gly) 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.
S94G (p.Ser94Gly) variant details
- p.Ser94Gly
- ExAC rs766563263
- gnomAD rs766563263
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.10
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available