D196N (p.Asp196Asn) variant of TNNI3 (Troponin I, cardiac muscle)
D196N (p.Asp196Asn) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D196N (p.Asp196Asn) variant details
- p.Asp196Asn
- rs104894727
- ClinGen CA022006
- cosmic curated COSV10734
- ClinVar RCV000013234
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.78
- AlphaMissense 0.86
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated)
- EBI: Pathogenic (in CMH7)
- UniProt: Pathogenic (in CMH7)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. (PMID 11815426)
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)