L27R (p.Leu27Arg) variant of ERCC4 (DNA repair endonuclease XPF)
L27R (p.Leu27Arg) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L27R (p.Leu27Arg) variant details
- p.Leu27Arg
- gnomAD 16-13920245-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.30
- CADD 31.00
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available