S46C (p.Ser46Cys) variant of MYPN (Myopalladin)
S46C (p.Ser46Cys) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- gnomAD rs1343630699
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available