A36P (p.Ala36Pro) variant of ERCC4 (DNA repair endonuclease XPF)
A36P (p.Ala36Pro) 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 Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
A36P (p.Ala36Pro) variant details
- p.Ala36Pro
- rs2141937194
- ClinGen CA394816172
- ClinVar RCV002608594
- Uncertain significance
- Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementatio
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.82
- MetaLR 0.53
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cockayne Syndrome. (PMID 20301516)
- Cited in: Fanconi Anemia. (PMID 20301575)