p.Thr54 Arg55insGly variant of TNNI1 (Troponin I, slow skeletal muscle)
p.Thr54 Arg55insGly in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Thr54 Arg55insGly variant details
- gnomAD 1-201414545-G-GCC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 18.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available