S15* (p.Ser15Ter) variant of KMT2E (Histone reader KMT2E)
S15* (p.Ser15Ter) 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, published literature, and structural context.
S15* (p.Ser15Ter) variant details
- p.Ser15Ter
- gnomAD 7-105040996-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available