Q63H (p.Gln63His) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q63H (p.Gln63His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- gnomAD 1-201414518-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.85
- CADD 35.00
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available