L47F (p.Leu47Phe) variant of TNNI3 (Troponin I, cardiac muscle)
L47F (p.Leu47Phe) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- rs786204398
- gnomAD 19-55156340-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 8.86
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available