A53E (p.Ala53Glu) variant of TG (Thyroglobulin)
A53E (p.Ala53Glu) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A53E (p.Ala53Glu) variant details
- p.Ala53Glu
- gnomAD 8-132868205-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.94
- CADD 19.60
- PolyPhen-2 0.17
- SIFT 0.16
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available