R37S (p.Arg37Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
R37S (p.Arg37Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- ExAC rs763864468
- TOPMed rs763864468
- gnomAD rs763864468
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available