L49V (p.Leu49Val) variant of TNNI3 (Troponin I, cardiac muscle)
L49V (p.Leu49Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- gnomAD rs1445843881
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.78
- MetaLR 0.89
- MetaSVM 0.87
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available