E6D (p.Glu6Asp) variant of TG (Thyroglobulin)
E6D (p.Glu6Asp) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD 8-132867018-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.05
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available