N17K (p.Asn17Lys) variant of PAX6 (Paired box protein Pax-6)
N17K (p.Asn17Lys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- rs1388158419
- ClinGen CA379959646
- ClinVar RCV000984355
- TOPMed rs1388158419
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Likely pathogenic (in AN1)
- UniProt: Likely pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.417
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)