E29K (p.Glu29Lys) variant of KMT2E (Histone reader KMT2E)
E29K (p.Glu29Lys) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- ExAC rs754091887
- gnomAD rs754091887
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available