E54D (p.Glu54Asp) variant of TG (Thyroglobulin)
E54D (p.Glu54Asp) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- TOPMed rs1404981492
- gnomAD rs1404981492
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.33
- MetaLR 0.26
- MetaSVM -0.42
- CADD 11.00
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available