K25* (p.Lys25Ter) variant of ERCC5 (P28715)
K25* (p.Lys25Ter) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K25* (p.Lys25Ter) variant details
- p.Lys25Ter
- gnomAD 13-102846339-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 48.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available