S50L (p.Ser50Leu) variant of KMT2E (Histone reader KMT2E)
S50L (p.Ser50Leu) 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 and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- 1000Genomes rs201587183
- ExAC rs201587183
- TOPMed rs201587183
- gnomAD rs201587183
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available