R27H (p.Arg27His) variant of TNNI3 (Troponin I, cardiac muscle)
R27H (p.Arg27His) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs2147285955
- ClinGen CA407442976
- NCI-TCGA Cosmic COSV6127
- ClinVar RCV002298146
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.54
- MetaLR 0.76
- MetaSVM 0.58
- CADD 29.60
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available