A21V (p.Ala21Val) variant of KMT2E (Histone reader KMT2E)
A21V (p.Ala21Val) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 7-105041014-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.58
- CADD 24.60
- PolyPhen-2 0.22
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available