L26M (p.Leu26Met) variant of ERCC4 (DNA repair endonuclease XPF)
L26M (p.Leu26Met) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L26M (p.Leu26Met) variant details
- p.Leu26Met
- gnomAD rs1177929089
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- CADD 24.10
- PolyPhen-2 0.56
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available