A46E (p.Ala46Glu) variant of TG (Thyroglobulin)
A46E (p.Ala46Glu) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A46E (p.Ala46Glu) variant details
- p.Ala46Glu
- gnomAD 8-132868184-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 5.26
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available