E13K (p.Glu13Lys) variant of KMT2E (Histone reader KMT2E)
E13K (p.Glu13Lys) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- gnomAD 7-105040989-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.49
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available