S5R (p.Ser5Arg) variant of MYPN (Myopalladin)
S5R (p.Ser5Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- rs1554839140
- ClinGen CA377103427
- ClinVar RCV000655045
- Ensembl rs1554839140
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available