E36del (p.Glu36del) variant of TNNI1 (Troponin I, slow skeletal muscle)
E36del (p.Glu36del) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E36del (p.Glu36del) variant details
- rs897039592
- gnomAD 1-201414598-GCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Literature evidence available