L68V (p.Leu68Val) variant of TPO (Thyroid peroxidase)
L68V (p.Leu68Val) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- rs1466586251
- gnomAD 3-184375538-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Literature evidence available