P14A (p.Pro14Ala) variant of ERCC4 (DNA repair endonuclease XPF)
P14A (p.Pro14Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- TOPMed rs2031939647
- gnomAD rs2031939647
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available