E18D (p.Glu18Asp) variant of MYPN (Myopalladin)
E18D (p.Glu18Asp) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYPN-related myopathy; Dilated cardiomyopathy 1KK; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- rs876657919
- ClinGen CA10576796
- ClinVar RCV000213132
- ClinVar RCV001234753
- Uncertain significance
- MYPN-related myopathy; Dilated cardiomyopathy 1KK; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.31
- CADD 20.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (MYPN-related myopathy; Dilated cardiomyopathy 1KK; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available