R67G (p.Arg67Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
R67G (p.Arg67Gly) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- 1000Genomes rs2296695
- ExAC rs2296695
- TOPMed rs2296695
- gnomAD rs2296695
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.80
- CADD 24.50
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available