L47V (p.Leu47Val) variant of TNNI3 (Troponin I, cardiac muscle)
L47V (p.Leu47Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- rs1013144337
- gnomAD 19-55156349-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.089
- CADD 1.50
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available