L5P (p.Leu5Pro) variant of TG (Thyroglobulin)
L5P (p.Leu5Pro) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- TOPMed rs1316252643
- gnomAD rs1316252643
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.87
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available