S38T (p.Ser38Thr) variant of MYPN (Myopalladin)
S38T (p.Ser38Thr) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S38T (p.Ser38Thr) variant details
- p.Ser38Thr
- rs761950155
- ClinGen CA335263
- ClinVar RCV000183564
- ClinVar RCV000797642
- Conflicting interpretations
- MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.06
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available