A12T (p.Ala12Thr) variant of TG (Thyroglobulin)
A12T (p.Ala12Thr) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 8-132867034-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.00
- CADD 12.30
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available