G36A (p.Gly36Ala) variant of PAX6 (Paired box protein Pax-6)
G36A (p.Gly36Ala) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The record also includes experimental measurements and structural context.
G36A (p.Gly36Ala) variant details
- p.Gly36Ala
- cosmic curated COSV10958
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.273