R44Q (p.Arg44Gln) variant of PAX6 (Paired box protein Pax-6)
R44Q (p.Arg44Gln) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AN1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- UniProt VAR 003812
- Pathogenic
- in AN1
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.178
- Cited in: Missense mutations in the PAX6 gene in aniridia. (PMID 9856761)
- Cited in: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PMID 10234503)