H54Y (p.His54Tyr) variant of KMT2E (Histone reader KMT2E)
H54Y (p.His54Tyr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- gnomAD 7-105062252-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.62
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available