A2V (p.Ala2Val) variant of TG (Thyroglobulin)
A2V (p.Ala2Val) in TG (Thyroglobulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- NCI-TCGA Cosmic COSV9960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -0.91
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available