R183W (p.Arg183Trp) variant of TNNT2 (Troponin T, cardiac muscle)
R183W (p.Arg183Trp) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Cardiomyopathy, familial restrictive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
R183W (p.Arg183Trp) variant details
- p.Arg183Trp
- rs727503512
- ClinGen CA10576372
- ClinVar RCV000223622
- ClinVar RCV000223699
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Cardiomyopathy, familial restrictive
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.70
- MetaLR 0.74
- MetaSVM 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)