D77E (p.Asp77Glu) variant of TNNI1 (Troponin I, slow skeletal muscle)
D77E (p.Asp77Glu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D77E (p.Asp77Glu) variant details
- p.Asp77Glu
- TOPMed rs1324527259
- gnomAD rs1324527259
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.69
- CADD 17.80
- PolyPhen-2 0.98
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available