S77Y (p.Ser77Tyr) variant of KMT2E (Histone reader KMT2E)
S77Y (p.Ser77Tyr) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S77Y (p.Ser77Tyr) variant details
- p.Ser77Tyr
- gnomAD 7-105063394-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.73
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available