I84T (p.Ile84Thr) variant of KMT2E (Histone reader KMT2E)
I84T (p.Ile84Thr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I84T (p.Ile84Thr) variant details
- p.Ile84Thr
- gnomAD 7-105063415-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available