V50F (p.Val50Phe) variant of TPO (Thyroid peroxidase)
V50F (p.Val50Phe) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V50F (p.Val50Phe) variant details
- p.Val50Phe
- gnomAD 3-184375586-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 9.15
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available