Q48L (p.Gln48Leu) variant of TNNI3 (Troponin I, cardiac muscle)
Q48L (p.Gln48Leu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q48L (p.Gln48Leu) variant details
- p.Gln48Leu
- 1000Genomes rs200720341
- ExAC rs200720341
- gnomAD rs200720341
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.23
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available