R14H (p.Arg14His) variant of TNNI1 (Troponin I, slow skeletal muscle)
R14H (p.Arg14His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of TNNI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- cosmic curated COSV10027
- ExAC rs747286830
- TOPMed rs747286830
- gnomAD rs747286830
- Uncertain significance
- TNNI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.81
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (TNNI1-related disorder)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available