D30G (p.Asp30Gly) variant of ERCC4 (DNA repair endonuclease XPF)
D30G (p.Asp30Gly) 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 0.58 / 1. The record also includes population frequency data and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- NCI-TCGA TCGA novel
- Ensembl rs878853037
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.61
- AlphaMissense 0.61
- MetaLR 0.35
- MetaSVM -0.35
- CADD 32.00
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available