T57T (p.Thr57Thr) variant of ERCC5 (P28715)
T57T (p.Thr57Thr) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T57T (p.Thr57Thr) variant details
- p.Thr57Thr
- gnomAD 13-102852200-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.86
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available