D30A (p.Asp30Ala) variant of ERCC4 (DNA repair endonuclease XPF)
D30A (p.Asp30Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
D30A (p.Asp30Ala) variant details
- p.Asp30Ala
- rs878853037
- ClinGen CA10581313
- ClinVar RCV000224195
- Ensembl rs878853037
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.61
- MetaLR 0.35
- MetaSVM -0.35
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available