S23* (p.Ser23Ter) variant of KMT2E (Histone reader KMT2E)
S23* (p.Ser23Ter) in KMT2E (Histone reader KMT2E) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- Ensembl rs1584714647
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available