R123S (p.Arg123Ser) variant of TNNT2 (Troponin T, cardiac muscle)
R123S (p.Arg123Ser) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature.
R123S (p.Arg123Ser) variant details
- p.Arg123Ser
- rs1558230929
- ClinGen CA344206325
- ClinVar RCV001301802
- Ensembl rs1558230929
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)