R102L (p.Arg102Leu) variant of TNNT2 (Troponin T, cardiac muscle)
R102L (p.Arg102Leu) 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; TNNT2-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature.
R102L (p.Arg102Leu) variant details
- p.Arg102Leu
- rs121964856
- ClinGen CA10581129
- cosmic curated COSV99372
- ClinVar RCV000223821
- Pathogenic
- Cardiovascular phenotype; TNNT2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.42
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.53
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)
- Cited in: Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. (PMID 8989109)
- Cited in: A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular… (PMID 10525521)