P43A (p.Pro43Ala) variant of XPC (Q01831)
P43A (p.Pro43Ala) 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.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- TOPMed rs1447136724
- gnomAD rs1447136724
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.07
- CADD 8.70
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available