P42H (p.Pro42His) variant of XPC (Q01831)
P42H (p.Pro42His) 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.
P42H (p.Pro42His) variant details
- p.Pro42His
- ESP rs373913397
- ExAC rs373913397
- gnomAD rs373913397
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available