D28N (p.Asp28Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D28N (p.Asp28Asn) 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; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- rs397516391
- ClinGen CA018380
- ClinVar RCV000036363
- ClinVar RCV000621745
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.36
- CADD 26.40
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)