E23D (p.Glu23Asp) variant of MYPN (Myopalladin)
E23D (p.Glu23Asp) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1KK; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs1200405630
- ClinGen CA377103546
- ClinVar RCV000695557
- ClinVar RCV001756205
- Uncertain significance
- not provided; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1KK; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available