K7E (p.Lys7Glu) variant of TNNI1 (Troponin I, slow skeletal muscle)
K7E (p.Lys7Glu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- TOPMed rs1662713214
- gnomAD rs1662713214
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- CADD 27.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available