M12K (p.Met12Lys) variant of ERCC4 (DNA repair endonuclease XPF)
M12K (p.Met12Lys) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M12K (p.Met12Lys) variant details
- p.Met12Lys
- gnomAD 16-13920200-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- CADD 27.20
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available