T47A (p.Thr47Ala) variant of KMT2E (Histone reader KMT2E)
T47A (p.Thr47Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- gnomAD 7-105062231-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available