H54H (p.His54His) variant of KMT2E (Histone reader KMT2E)
H54H (p.His54His) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H54H (p.His54His) variant details
- p.His54His
- gnomAD 7-105062254-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available