S18L (p.Ser18Leu) variant of TG (Thyroglobulin)
S18L (p.Ser18Leu) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- ExAC rs745469083
- TOPMed rs745469083
- gnomAD rs745469083
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -0.90
- CADD 9.82
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available