Q21P (p.Gln21Pro) variant of ERCC4 (DNA repair endonuclease XPF)
Q21P (p.Gln21Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q21P (p.Gln21Pro) variant details
- p.Gln21Pro
- ExAC rs756494000
- TOPMed rs756494000
- gnomAD rs756494000
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.39
- CADD 28.00
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available