V26L (p.Val26Leu) variant of TG (Thyroglobulin)
V26L (p.Val26Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
V26L (p.Val26Leu) variant details
- p.Val26Leu
- ExAC rs779477989
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.90
- CADD 18.40
- PolyPhen-2 0.11
- SIFT 0.94
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available