L53L (p.Leu53Leu) variant of TNNI3 (Troponin I, cardiac muscle)
L53L (p.Leu53Leu) in TNNI3 (Troponin I, cardiac muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- rs763981651
- gnomAD 19-55156326-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available