R26P (p.Arg26Pro) variant of ERCC2 (P18074)
R26P (p.Arg26Pro) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- ExAC rs770507184
- TOPMed rs770507184
- gnomAD rs770507184
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available