R13H (p.Arg13His) variant of TNNI3 (Troponin I, cardiac muscle)
R13H (p.Arg13His) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs2085738889
- ClinGen CA407443203
- ClinVar RCV002278877
- TOPMed rs2085738889
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.78
- CADD 10.90
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available