L57L (p.Leu57Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
L57L (p.Leu57Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- gnomAD 1-201414536-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 10.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available