I89N (p.Ile89Asn) variant of TNNT2 (Troponin T, cardiac muscle)
I89N (p.Ile89Asn) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Cardiomyopathy, familial restrictive, 3; Dilated cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
I89N (p.Ile89Asn) variant details
- p.Ile89Asn
- rs121964855
- ClinGen CA004157
- ClinVar RCV000013217
- ClinVar RCV000013218
- Pathogenic
- Cardiovascular phenotype; Cardiomyopathy, familial restrictive, 3; Dilated cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiomyopathy, familial restrictive,)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. (PMID 18651846)
- Cited in: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the… (PMID 8205619)