R55S (p.Arg55Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
R55S (p.Arg55Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- 1000Genomes rs545684730
- ExAC rs545684730
- TOPMed rs545684730
- gnomAD rs545684730
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available