L83P (p.Leu83Pro) variant of KMT2E (Histone reader KMT2E)
L83P (p.Leu83Pro) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L83P (p.Leu83Pro) variant details
- p.Leu83Pro
- TOPMed rs1683568677
- gnomAD rs1683568677
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.55
- CADD 26.70
- PolyPhen-2 0.82
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available