R38H (p.Arg38His) variant of TPO (Thyroid peroxidase)
R38H (p.Arg38His) 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.
R38H (p.Arg38His) variant details
- p.Arg38His
- cosmic curated COSV61099
- 1000Genomes rs200427779
- ESP rs200427779
- ExAC rs200427779
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)