A21E (p.Ala21Glu) variant of KMT2E (Histone reader KMT2E)
A21E (p.Ala21Glu) 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, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 7-105041014-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.74
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available