D55G (p.Asp55Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
D55G (p.Asp55Gly) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- rs1566937759
- ClinGen CA392718582
- ClinVar RCV000706303
- ClinVar RCV001170565
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 22.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)