R144G (p.Arg144Gly) variant of TNNT2 (Troponin T, cardiac muscle)
R144G (p.Arg144Gly) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature.
R144G (p.Arg144Gly) variant details
- p.Arg144Gly
- rs45525839
- ClinGen CA004479
- ClinVar RCV000036587
- ClinVar RCV002513390
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)