F22L (p.Phe22Leu) variant of TG (Thyroglobulin)
F22L (p.Phe22Leu) 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 0.19 / 1. The record also includes population frequency data and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- Ensembl rs1340994770
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.23
- MetaLR 0.12
- MetaSVM -1.01
- CADD 6.42
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available