P70L (p.Pro70Leu) variant of TPO (Thyroid peroxidase)
P70L (p.Pro70Leu) 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, published literature, and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- gnomAD 3-184375573-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available