A2T (p.Ala2Thr) variant of TG (Thyroglobulin)
A2T (p.Ala2Thr) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 8-132867004-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.02
- MetaLR 0.15
- MetaSVM -0.96
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available