P37S (p.Pro37Ser) variant of MYPN (Myopalladin)
P37S (p.Pro37Ser) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary familial dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs1048512621
- ClinGen CA209185510
- ClinVar RCV000845528
- TOPMed rs1048512621
- Uncertain significance
- Primary familial dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Primary familial dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)