Y48C (p.Tyr48Cys) variant of TG (Thyroglobulin)
Y48C (p.Tyr48Cys) in TG (Thyroglobulin) is a missense change. 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.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- TOPMed rs1478582021
- gnomAD rs1478582021
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.55
- MetaLR 0.63
- MetaSVM -0.01
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available