L49Q (p.Leu49Gln) variant of TNNI3 (Troponin I, cardiac muscle)
L49Q (p.Leu49Gln) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L49Q (p.Leu49Gln) variant details
- p.Leu49Gln
- rs1397663689
- ClinGen CA407442355
- ClinVar RCV003172081
- ClinVar RCV004009636
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.92
- MetaLR 0.91
- MetaSVM 1.03
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available