M1V (p.Met1Val) variant of PAX6 (Paired box protein Pax-6)
M1V (p.Met1Val) 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 Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1131692284
- ClinGen CA379960125
- ClinVar RCV000496024
- ClinVar RCV003488635
- Pathogenic
- Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- MetaLR 0.90
- MetaSVM 0.80
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.99
- ClinVar: Pathogenic (Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.0439
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)