T51K (p.Thr51Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
T51K (p.Thr51Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T51K (p.Thr51Lys) variant details
- p.Thr51Lys
- ESP rs372956100
- ExAC rs372956100
- TOPMed rs372956100
- gnomAD rs372956100
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available