M12L (p.Met12Leu) variant of ERCC4 (DNA repair endonuclease XPF)
M12L (p.Met12Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M12L (p.Met12Leu) variant details
- p.Met12Leu
- ExAC rs750358005
- gnomAD rs750358005
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.10
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available