E32Q (p.Glu32Gln) variant of TNNI3 (Troponin I, cardiac muscle)
E32Q (p.Glu32Gln) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD rs1325580070
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.39
- MetaLR 0.85
- MetaSVM 0.84
- CADD 23.30
- PolyPhen-2 0.61
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available