V50I (p.Val50Ile) variant of TPO (Thyroid peroxidase)
V50I (p.Val50Ile) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- rs1195404124
- gnomAD 3-184375586-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 6.26
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available