N20Y (p.Asn20Tyr) variant of TG (Thyroglobulin)
N20Y (p.Asn20Tyr) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N20Y (p.Asn20Tyr) variant details
- p.Asn20Tyr
- ExAC rs779612122
- TOPMed rs779612122
- gnomAD rs779612122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.51
- MetaLR 0.34
- MetaSVM -0.47
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-06)
- Structural context available