I3M (p.Ile3Met) variant of KMT2E (Histone reader KMT2E)
I3M (p.Ile3Met) 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 and structural context.
I3M (p.Ile3Met) variant details
- p.Ile3Met
- TOPMed rs1795850665
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.79
- CADD 23.90
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available