N4S (p.Asn4Ser) variant of PAX8 (Paired box protein Pax-8)
N4S (p.Asn4Ser) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- TOPMed rs1356475693
- gnomAD rs1356475693
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.57
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available