S69N (p.Ser69Asn) variant of TPO (Thyroid peroxidase)
S69N (p.Ser69Asn) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- rs141465516
- gnomAD 3-184375540-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Literature evidence available