S52P (p.Ser52Pro) variant of XPC (Q01831)
S52P (p.Ser52Pro) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S52P (p.Ser52Pro) variant details
- p.Ser52Pro
- Ensembl rs1696675244
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- CADD 7.95
- PolyPhen-2 0.17
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available