F258S (p.Phe258Ser) variant of PAX6 (Paired box protein Pax-6)
F258S (p.Phe258Ser) 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, ocular, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
F258S (p.Phe258Ser) variant details
- p.Phe258Ser
- rs121907925
- ClinGen CA116241
- ClinVar RCV003883461
- UniProt VAR 017542
- Pathogenic
- Coloboma, ocular, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Coloboma, ocular, autosomal dominant)
- EBI: Pathogenic (in MCOPCB12 and COLON)
- UniProt: Pathogenic (in MCOPCB12 and COLON)
- Structural context available
- Cited in: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. (PMID 12721955)