E28E (p.Glu28Glu) variant of TNNI1 (Troponin I, slow skeletal muscle)
E28E (p.Glu28Glu) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1553294614
- gnomAD 1-201414623-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available