T122I (p.Thr122Ile) variant of ERCC2 (P18074)
T122I (p.Thr122Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
T122I (p.Thr122Ile) variant details
- p.Thr122Ile
- rs770334103
- ClinGen CA9513811
- ClinVar RCV002544201
- ExAC rs770334103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- CADD 21.50
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available