P103Q (p.Pro103Gln) variant of ERCC2 (P18074)
P103Q (p.Pro103Gln) 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 0.18 / 1. The record also includes population frequency data and structural context.
P103Q (p.Pro103Gln) variant details
- p.Pro103Gln
- ESP rs142462393
- ExAC rs142462393
- TOPMed rs142462393
- gnomAD rs142462393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.12
- CADD 8.91
- PolyPhen-2 0.05
- SIFT 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available