D4N (p.Asp4Asn) variant of MYPN (Myopalladin)
D4N (p.Asp4Asn) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
D4N (p.Asp4Asn) variant details
- p.Asp4Asn
- rs748778010
- ExAC rs748778010
- gnomAD rs748778010
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available