Y44F (p.Tyr44Phe) variant of TNNI1 (Troponin I, slow skeletal muscle)
Y44F (p.Tyr44Phe) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Y44F (p.Tyr44Phe) variant details
- p.Tyr44Phe
- gnomAD 1-201414576-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.80
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available