N40K (p.Asn40Lys) variant of MYPN (Myopalladin)
N40K (p.Asn40Lys) 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 0.15 / 1. The record also includes population frequency data and structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- rs750516979
- ExAC rs750516979
- TOPMed rs750516979
- gnomAD rs750516979
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.06
- CADD 17.20
- PolyPhen-2 0.09
- SIFT 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available