P68S (p.Pro68Ser) variant of PAX6 (Paired box protein Pax-6)
P68S (p.Pro68Ser) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coloboma of optic nerve. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
P68S (p.Pro68Ser) variant details
- p.Pro68Ser
- rs121907923
- ClinGen CA116233
- ClinVar RCV000003643
- UniProt VAR 017540
- Pathogenic
- Coloboma of optic nerve
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Coloboma of optic nerve)
- EBI: Pathogenic (in morning glory disk anomaly)
- UniProt: Pathogenic (in morning glory disk anomaly)
- Structural context available
- Cited in: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. (PMID 12721955)