S19N (p.Ser19Asn) variant of MYPN (Myopalladin)
S19N (p.Ser19Asn) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- rs1379540680
- ClinGen CA377103517
- ClinVar RCV001904085
- ClinVar RCV005374835
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.13
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available