H43H (p.His43His) variant of KMT2E (Histone reader KMT2E)
H43H (p.His43His) in KMT2E (Histone reader KMT2E) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H43H (p.His43His) variant details
- p.His43His
- gnomAD 7-105062221-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 11.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available