E38E (p.Glu38Glu) variant of TNNI1 (Troponin I, slow skeletal muscle)
E38E (p.Glu38Glu) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E38E (p.Glu38Glu) variant details
- p.Glu38Glu
- rs1040207758
- gnomAD 1-201414593-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 11.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available