E36V (p.Glu36Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
E36V (p.Glu36Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E36V (p.Glu36Val) variant details
- p.Glu36Val
- gnomAD 1-201414600-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available