Y41F (p.Tyr41Phe) variant of KMT2E (Histone reader KMT2E)
Y41F (p.Tyr41Phe) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y41F (p.Tyr41Phe) variant details
- p.Tyr41Phe
- gnomAD 7-105062214-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.22
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available