D28H (p.Asp28His) variant of TPM1 (Tropomyosin alpha-1 chain)
D28H (p.Asp28His) 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 Hypertrophic cardiomyopathy 21; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D28H (p.Asp28His) variant details
- p.Asp28His
- rs397516391
- ClinGen CA018385
- ClinVar RCV000036364
- ClinVar RCV000620750
- Conflicting interpretations
- Hypertrophic cardiomyopathy 21; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 21; Cardiovascular phenotype; not sp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)