P103R (p.Pro103Arg) variant of ERCC2 (P18074)
P103R (p.Pro103Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
P103R (p.Pro103Arg) variant details
- p.Pro103Arg
- rs142462393
- ClinGen CA9513833
- ClinVar RCV002770331
- ESP rs142462393
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- CADD 9.77
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available