A36A (p.Ala36Ala) variant of ERCC4 (DNA repair endonuclease XPF)
A36A (p.Ala36Ala) in ERCC4 (DNA repair endonuclease XPF) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A36A (p.Ala36Ala) variant details
- p.Ala36Ala
- gnomAD 16-13920273-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available