P11S (p.Pro11Ser) variant of XPC (Q01831)
P11S (p.Pro11Ser) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- ExAC rs779973972
- TOPMed rs779973972
- gnomAD rs779973972
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- REVEL 0.06
- CADD 6.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available