E7D (p.Glu7Asp) variant of MYPN (Myopalladin)
E7D (p.Glu7Asp) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs759945622
- ClinGen CA377103446
- ClinVar RCV001964428
- ClinVar RCV003418268
- Uncertain significance
- Dilated cardiomyopathy 1KK; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- CADD 17.00
- PolyPhen-2 0.12
- SIFT 0.52
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available