L52L (p.Leu52Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
L52L (p.Leu52Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- rs746701305
- gnomAD 1-201414551-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 11.20
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available