A28V (p.Ala28Val) variant of TG (Thyroglobulin)
A28V (p.Ala28Val) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs114543085
- ClinGen CA4882786
- ClinVar RCV004526301
- 1000Genomes rs114543085
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.92
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available