G22C (p.Gly22Cys) variant of KMT2E (Histone reader KMT2E)
G22C (p.Gly22Cys) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD 7-105041016-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.81
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available