E11K (p.Glu11Lys) variant of TNNI3 (Troponin I, cardiac muscle)
E11K (p.Glu11Lys) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD rs1379665147
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- MetaLR 0.34
- MetaSVM -0.80
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.67
- Population evidence available
- Structural context available