R112G (p.Arg112Gly) variant of ERCC2 (P18074)
R112G (p.Arg112Gly) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R112G (p.Arg112Gly) variant details
- p.Arg112Gly
- 1000Genomes rs760820378
- ExAC rs760820378
- gnomAD rs760820378
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.86
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic (in TTD1 and XP-D)
- UniProt: Likely pathogenic (in TTD1 and XP-D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available