S69R (p.Ser69Arg) variant of TPO (Thyroid peroxidase)
S69R (p.Ser69Arg) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
S69R (p.Ser69Arg) variant details
- p.Ser69Arg
- gnomAD 3-184375541-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available