L79V (p.Leu79Val) variant of TPO (Thyroid peroxidase)
L79V (p.Leu79Val) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
L79V (p.Leu79Val) variant details
- p.Leu79Val
- rs1198282196
- gnomAD 3-184373558-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 23.00
- PolyPhen-2 0.57
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available