E23Q (p.Glu23Gln) variant of TG (Thyroglobulin)
E23Q (p.Glu23Gln) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- TOPMed rs1024568791
- gnomAD rs1024568791
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.29
- MetaLR 0.31
- MetaSVM -0.32
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available