R48G (p.Arg48Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
R48G (p.Arg48Gly) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- 1000Genomes rs142145258
- ESP rs142145258
- ExAC rs142145258
- TOPMed rs142145258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.77
- CADD 24.80
- PolyPhen-2 0.36
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available