E40Q (p.Glu40Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
E40Q (p.Glu40Gln) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- gnomAD 1-201414589-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available