K72M (p.Lys72Met) variant of TNNI1 (Troponin I, slow skeletal muscle)
K72M (p.Lys72Met) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
K72M (p.Lys72Met) variant details
- p.Lys72Met
- gnomAD 1-201413096-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- CADD 28.80
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available