R43S (p.Arg43Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
R43S (p.Arg43Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- 1000Genomes rs201145849
- ExAC rs201145849
- TOPMed rs201145849
- gnomAD rs201145849
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.50
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.18
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available