E40E (p.Glu40Glu) variant of TNNI1 (Troponin I, slow skeletal muscle)
E40E (p.Glu40Glu) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 1-201414587-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available