M19K (p.Met19Lys) variant of KMT2E (Histone reader KMT2E)
M19K (p.Met19Lys) 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 0.72 / 1. The record also includes population frequency data and structural context.
M19K (p.Met19Lys) variant details
- p.Met19Lys
- gnomAD rs1409862009
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.81
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.00
- 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