R102Q (p.Arg102Gln) variant of TNNT2 (Troponin T, cardiac muscle)
R102Q (p.Arg102Gln) in TNNT2 (Troponin T, 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; not provided; Cardiomyopathy, familial restrictive, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
R102Q (p.Arg102Gln) variant details
- p.Arg102Gln
- rs121964856
- ClinGen CA004273
- cosmic curated COSV52665
- ClinVar RCV000013220
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Cardiomyopathy, familial restrictive, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.42
- MetaLR 0.96
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Cardiomyopathy, familial)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Cited in: Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the… (PMID 8205619)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)