A41V (p.Ala41Val) variant of TG (Thyroglobulin)
A41V (p.Ala41Val) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- TOPMed rs1839145695
- gnomAD rs1839145695
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.41
- MetaLR 0.44
- MetaSVM -0.09
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available