D159N (p.Asp159Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D159N (p.Asp159Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant TPM1-related disorders; Familial cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D159N (p.Asp159Asn) variant details
- p.Asp159Asn
- rs397516373
- ClinGen CA018069
- cosmic curated COSV51264
- ClinVar RCV000036335
- Pathogenic/Likely pathogenic
- Autosomal dominant TPM1-related disorders; Familial cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant TPM1-related disorders; Familial cardiomyopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin… (PMID 27177193)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)