R94I (p.Arg94Ile) variant of TNNT2 (Troponin T, cardiac muscle)
R94I (p.Arg94Ile) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
R94I (p.Arg94Ile) variant details
- p.Arg94Ile
- rs397516452
- ClinGen CA344206660
- ClinVar RCV003794737
- ClinVar RCV004775500
- Conflicting interpretations
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.27
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)