E23K (p.Glu23Lys) variant of MYPN (Myopalladin)
E23K (p.Glu23Lys) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs2042240739
- ClinGen CA377103540
- ClinVar RCV002369479
- TOPMed rs2042240739
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.39
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available