S20R (p.Ser20Arg) variant of TNNI1 (Troponin I, slow skeletal muscle)
S20R (p.Ser20Arg) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- 1000Genomes rs201837726
- ExAC rs201837726
- TOPMed rs201837726
- gnomAD rs201837726
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.75
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available