E68G (p.Glu68Gly) variant of TNNI1 (Troponin I, slow skeletal muscle)
E68G (p.Glu68Gly) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. 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.
E68G (p.Glu68Gly) variant details
- p.Glu68Gly
- ExAC rs771706605
- gnomAD rs771706605
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.85
- CADD 29.30
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available