E28K (p.Glu28Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E28K (p.Glu28Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- TOPMed rs1454856567
- gnomAD rs1454856567
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available