L3V (p.Leu3Val) variant of TG (Thyroglobulin)
L3V (p.Leu3Val) in TG (Thyroglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD 8-132867007-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -0.93
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available