D51N (p.Asp51Asn) variant of TPO (Thyroid peroxidase)
D51N (p.Asp51Asn) in TPO (Thyroid peroxidase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs1005731602
- gnomAD 3-184373564-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available