C60Y (p.Cys60Tyr) variant of SCN10A (Q9Y5Y9)
C60Y (p.Cys60Tyr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- rs145900411
- ClinGen CA2321290
- ClinVar RCV000983846
- ClinVar RCV001664586
- Conflicting interpretations
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.57
- MetaLR 0.83
- MetaSVM 0.90
- CADD 23.10
- PolyPhen-2 0.54
- SIFT 0.44
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)