Q48H (p.Gln48His) variant of TNNI3 (Troponin I, cardiac muscle)
Q48H (p.Gln48His) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- Ensembl rs866918068
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.46
- MetaLR 0.61
- MetaSVM 0.03
- CADD 23.10
- PolyPhen-2 0.82
- SIFT 1.00
- Population evidence available
- Structural context available