S41F (p.Ser41Phe) variant of DSC2 (Desmocollin-2)
S41F (p.Ser41Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- rs772104020
- ClinGen CA030336
- ClinVar RCV003533611
- ExAC rs772104020
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)