P6A (p.Pro6Ala) variant of ERCC4 (DNA repair endonuclease XPF)
P6A (p.Pro6Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- 1000Genomes rs61760160
- ESP rs61760160
- ExAC rs61760160
- TOPMed rs61760160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.04
- CADD 7.21
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available