D55Y (p.Asp55Tyr) variant of TPM1 (Tropomyosin alpha-1 chain)
D55Y (p.Asp55Tyr) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- rs397516363
- ClinGen CA392718580
- ClinVar RCV000852460
- Ensembl rs397516363
- Likely pathogenic
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.40
- ClinVar: Likely pathogenic (Cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)