T31R (p.Thr31Arg) variant of ERCC2 (P18074)
T31R (p.Thr31Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- ESP rs374798062
- ExAC rs374798062
- TOPMed rs374798062
- gnomAD rs374798062
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- CADD 31.00
- PolyPhen-2 0.76
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available