E39Q (p.Glu39Gln) variant of TG (Thyroglobulin)
E39Q (p.Glu39Gln) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD 8-132868162-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- MetaLR 0.34
- MetaSVM -0.56
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available