E35Q (p.Glu35Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
E35Q (p.Glu35Gln) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E35Q (p.Glu35Gln) variant details
- p.Glu35Gln
- gnomAD 1-201414604-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.17
- CADD 16.20
- PolyPhen-2 0.06
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available