F58L (p.Phe58Leu) variant of DSC2 (Desmocollin-2)
F58L (p.Phe58Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- rs138749562
- ClinGen CA402114956
- ClinVar RCV001177190
- 1000Genomes rs138749562
- Likely benign
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.42
- MetaLR 0.06
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.06
- ClinVar: Likely benign (Cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)