Q63Q (p.Gln63Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q63Q (p.Gln63Gln) in TNNI1 (Troponin I, slow skeletal muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q63Q (p.Gln63Gln) variant details
- p.Gln63Gln
- gnomAD 1-201414518-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.50
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available