R141Q (p.Arg141Gln) variant of TNNT2 (Troponin T, cardiac muscle)
R141Q (p.Arg141Gln) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs397516464
- ClinGen CA004465
- ClinVar RCV000036585
- ClinVar RCV000520859
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Pathogenic (in CMD1D)
- UniProt: Pathogenic (in CMD1D)
- Population evidence available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)