R14C (p.Arg14Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
R14C (p.Arg14Cys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of TNNI1-related disorder; TNNI1-related congenital myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs771077280
- ClinGen CA1325535
- cosmic curated COSV10465
- ClinVar RCV003333902
- Uncertain significance
- TNNI1-related disorder; TNNI1-related congenital myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.82
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (TNNI1-related disorder; TNNI1-related congenital myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available