R38W (p.Arg38Trp) variant of PAX6 (Paired box protein Pax-6)
R38W (p.Arg38Trp) 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 Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs397514640
- ClinGen CA261246
- ClinVar RCV000033168
- ClinVar RCV003764654
- Pathogenic/Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided)
- EBI: Pathogenic (in FVH1)
- UniProt: Pathogenic (in FVH1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.621
- Cited in: Heterozygous mutations of OTX2 cause severe ocular malformations. (PMID 15846561)
- Cited in: Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. (PMID 17406642)