R141P (p.Arg141Pro) variant of TNNT2 (Troponin T, cardiac muscle)
R141P (p.Arg141Pro) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.84 / 1. The record also includes published literature.
R141P (p.Arg141Pro) variant details
- p.Arg141Pro
- rs397516464
- ClinGen CA004472
- ClinVar RCV000036586
- ClinVar RCV000534598
- Likely pathogenic
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- EBI: Pathogenic (in CMD1D)
- UniProt: Pathogenic (in CMD1D)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)