L17F (p.Leu17Phe) variant of KMT2E (Histone reader KMT2E)
L17F (p.Leu17Phe) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- TOPMed rs1795852303
- gnomAD rs1795852303
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.38
- CADD 23.90
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available