D47N (p.Asp47Asn) variant of TG (Thyroglobulin)
D47N (p.Asp47Asn) 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 and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- TOPMed rs1208857552
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.84
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available