M12W (p.Met12Trp) variant of ERCC4 (DNA repair endonuclease XPF)
M12W (p.Met12Trp) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M12W (p.Met12Trp) variant details
- p.Met12Trp
- gnomAD 16-13920196-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 22.80
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available