Q63L (p.Gln63Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q63L (p.Gln63Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q63L (p.Gln63Leu) variant details
- p.Gln63Leu
- Ensembl rs2102371692
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the 1KG:KHV population (allele frequency 0.0056)
- Structural context available