A21T (p.Ala21Thr) variant of KMT2E (Histone reader KMT2E)
A21T (p.Ala21Thr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD 7-105041013-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.65
- CADD 25.00
- PolyPhen-2 0.23
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available