Q5P (p.Gln5Pro) variant of ERCC4 (DNA repair endonuclease XPF)
Q5P (p.Gln5Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- gnomAD 16-13920179-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0535
- REVEL 0.05
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available