L27P (p.Leu27Pro) variant of ERCC4 (DNA repair endonuclease XPF)
L27P (p.Leu27Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 16-13920245-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available