E36K (p.Glu36Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E36K (p.Glu36Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- gnomAD rs1173154951
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available