G56S (p.Gly56Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
G56S (p.Gly56Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- ExAC rs778146104
- TOPMed rs778146104
- gnomAD rs778146104
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.46
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available