R55G (p.Arg55Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
R55G (p.Arg55Gly) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R55G (p.Arg55Gly) variant details
- p.Arg55Gly
- 1000Genomes rs545684730
- ExAC rs545684730
- TOPMed rs545684730
- gnomAD rs545684730
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.015)
- Structural context available