H64N (p.His64Asn) variant of KMT2E (Histone reader KMT2E)
H64N (p.His64Asn) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H64N (p.His64Asn) variant details
- p.His64Asn
- gnomAD 7-105063354-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.67
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available