G18V (p.Gly18Val) variant of PAX6 (Paired box protein Pax-6)
G18V (p.Gly18Val) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AN1. The record also includes experimental measurements and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53795
- Variant assessed as somatic; moderate impact.
- in AN1
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.53