R208W (p.Arg208Trp) variant of PAX6 (Paired box protein Pax-6)
R208W (p.Arg208Trp) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant PAX6-related disorders; PAX6-related disorder; Foveal hypopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R208W (p.Arg208Trp) variant details
- p.Arg208Trp
- rs757259413
- ClinGen CA5933833
- ClinVar RCV000413794
- ClinVar RCV000984424
- Pathogenic/Likely pathogenic
- Autosomal dominant PAX6-related disorders; PAX6-related disorder; Foveal hypopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant PAX6-related disorders; PAX6-related disorder)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Population evidence available
- Structural context available
- Cited in: PAX6 mutations in aniridia. (PMID 8364574)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)