L21P (p.Leu21Pro) variant of TNNI1 (Troponin I, slow skeletal muscle)
L21P (p.Leu21Pro) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- TOPMed rs1294933494
- gnomAD rs1294933494
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available