V256A (p.Val256Ala) variant of PAX6 (Paired box protein Pax-6)
V256A (p.Val256Ala) 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 Coloboma, ocular, autosomal dominant. The record also includes published literature and structural context.
V256A (p.Val256Ala) variant details
- p.Val256Ala
- rs2495123636
- ClinGen CA379956583
- ClinVar RCV003883473
- Pathogenic
- Coloboma, ocular, autosomal dominant
- Missense
- ClinVar: Pathogenic (Coloboma, ocular, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel ENU-induced eye mutations in the mouse: models for human eye disease. (PMID 11929848)
- Cited in: Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. (PMID 26130484)