A50D (p.Ala50Asp) variant of MYPN (Myopalladin)
A50D (p.Ala50Asp) 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 0.22 / 1. The record also includes population frequency data and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- rs753497003
- ClinGen CA377103705
- ClinVar RCV002389866
- ExAC rs753497003
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available