N50K (p.Asn50Lys) variant of PAX6 (Paired box protein Pax-6)
N50K (p.Asn50Lys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Anophthalmia-microphthalmia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements and structural context.
N50K (p.Asn50Lys) variant details
- p.Asn50Lys
- rs727504064
- ClinGen CA234482
- ClinVar RCV000153641
- ClinVar RCV000207422
- Conflicting interpretations
- not provided; Anophthalmia-microphthalmia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; Anophthalmia-microphthalmia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.558