R43P (p.Arg43Pro) variant of TNNI1 (Troponin I, slow skeletal muscle)
R43P (p.Arg43Pro) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- 1000Genomes rs182471625
- ExAC rs182471625
- TOPMed rs182471625
- gnomAD rs182471625
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.71
- CADD 24.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available