L47R (p.Leu47Arg) variant of TNNI3 (Troponin I, cardiac muscle)
L47R (p.Leu47Arg) in TNNI3 (Troponin I, cardiac muscle) is a missense 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.
L47R (p.Leu47Arg) variant details
- p.Leu47Arg
- rs1438878332
- gnomAD 19-55156330-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available