P42S (p.Pro42Ser) variant of XPC (Q01831)
P42S (p.Pro42Ser) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- TOPMed rs1427135900
- gnomAD rs1427135900
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available