S70N (p.Ser70Asn) variant of PAX8 (Paired box protein Pax-8)
S70N (p.Ser70Asn) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S70N (p.Ser70Asn) variant details
- p.Ser70Asn
- rs1394782858
- gnomAD 2-113227103-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 2.05
- Population evidence available
- Structural context available
- Literature evidence available