E23* (p.Glu23Ter) variant of ERCC5 (P28715)
E23* (p.Glu23Ter) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- gnomAD 13-102846333-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 43.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available