K27R (p.Lys27Arg) variant of TNNI1 (Troponin I, slow skeletal muscle)
K27R (p.Lys27Arg) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- ExAC rs745403328
- TOPMed rs745403328
- gnomAD rs745403328
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.62
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available