D84N (p.Asp84Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D84N (p.Asp84Asn) 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 Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1Y; Cardiovascular phenotype. 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.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs754664923
- ClinGen CA028881
- ClinVar RCV000242724
- ClinVar RCV001699094
- Likely pathogenic
- Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1Y; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy; Dilated cardiomyopathy 1Y; Cardiova)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)