S77F (p.Ser77Phe) variant of KMT2E (Histone reader KMT2E)
S77F (p.Ser77Phe) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S77F (p.Ser77Phe) variant details
- p.Ser77Phe
- gnomAD 7-105063394-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available