R48C (p.Arg48Cys) variant of TNNI1 (Troponin I, slow skeletal muscle)
R48C (p.Arg48Cys) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs142145258
- ClinGen CA1325494
- ClinVar RCV004113623
- 1000Genomes rs142145258
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.79
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.081)
- Structural context available