T57I (p.Thr57Ile) variant of ERCC5 (P28715)
T57I (p.Thr57Ile) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- TOPMed rs1353597671
- gnomAD rs1353597671
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available