P14Q (p.Pro14Gln) variant of ERCC4 (DNA repair endonuclease XPF)
P14Q (p.Pro14Gln) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- gnomAD 16-13920206-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.19
- CADD 27.70
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available