E20* (p.Glu20Ter) variant of ERCC5 (P28715)
E20* (p.Glu20Ter) 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.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- gnomAD 13-102846324-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available