T94A (p.Thr94Ala) variant of KMT2E (Histone reader KMT2E)
T94A (p.Thr94Ala) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- gnomAD 7-105063444-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available