E28G (p.Glu28Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
E28G (p.Glu28Gly) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- TOPMed rs1662702800
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.72
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available