M12I (p.Met12Ile) variant of ERCC4 (DNA repair endonuclease XPF)
M12I (p.Met12Ile) 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 Inborn genetic diseases; Xeroderma pigmentosum, group F; Cockayne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- TOPMed rs1366397352
- Uncertain significance
- Inborn genetic diseases; Xeroderma pigmentosum, group F; Cockayne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Xeroderma pigmentosum, group F; Cockayn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available