V50V (p.Val50Val) variant of TPO (Thyroid peroxidase)
V50V (p.Val50Val) in TPO (Thyroid peroxidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- rs754197840
- gnomAD 3-184375548-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 9.33
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available