Y48Y (p.Tyr48Tyr) variant of TG (Thyroglobulin)
Y48Y (p.Tyr48Tyr) in TG (Thyroglobulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- rs114436500
- gnomAD 8-132868191-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.88
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)