R44P (p.Arg44Pro) variant of PAX6 (Paired box protein Pax-6)
R44P (p.Arg44Pro) 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 Microphthalmia; Developmental cataract. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- rs1554985722
- ClinGen CA379959478
- ClinVar RCV000603782
- Ensembl rs1554985722
- Pathogenic
- Microphthalmia; Developmental cataract
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Microphthalmia; Developmental cataract)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.178