N99S (p.Asn99Ser) variant of PAX8 (Paired box protein Pax-8)
N99S (p.Asn99Ser) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N99S (p.Asn99Ser) variant details
- p.Asn99Ser
- 1000Genomes rs576393159
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available