R61G (p.Arg61Gly) variant of ERCC2 (P18074)
R61G (p.Arg61Gly) in ERCC2 (P18074) 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 0.35 / 1. The record also includes population frequency data and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- rs1420151470
- ClinGen CA406379381
- ClinVar RCV003733539
- TOPMed rs1420151470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- AlphaMissense 0.20
- MetaLR 0.31
- MetaSVM -0.71
- CADD 22.10
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available