S61C (p.Ser61Cys) variant of TPM1 (Tropomyosin alpha-1 chain)
S61C (p.Ser61Cys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S61C (p.Ser61Cys) variant details
- p.Ser61Cys
- rs2031863455
- ClinGen CA392718626
- ClinVar RCV001045668
- ClinVar RCV003532356
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.61
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)