A46Q (p.Ala46Gln) variant of TG (Thyroglobulin)
A46Q (p.Ala46Gln) in TG (Thyroglobulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A46Q (p.Ala46Gln) variant details
- p.Ala46Gln
- rs1458505722
- gnomAD 8-132868180-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available