Q51L (p.Gln51Leu) variant of TG (Thyroglobulin)
Q51L (p.Gln51Leu) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q51L (p.Gln51Leu) variant details
- p.Gln51Leu
- gnomAD 8-132868199-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.66
- MetaLR 0.51
- MetaSVM 0.13
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available