S38F (p.Ser38Phe) variant of MYPN (Myopalladin)
S38F (p.Ser38Phe) 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; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S38F (p.Ser38Phe) variant details
- p.Ser38Phe
- rs549116983
- ClinGen CA5522228
- cosmic curated COSV10649
- ClinVar RCV001927574
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available