M1I (p.Met1Ile) variant of PAX6 (Paired box protein Pax-6)
M1I (p.Met1Ile) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anophthalmia-microphthalmia syndrome; Autosomal dominant keratitis; carboxymethy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1554986754
- ClinGen CA379960119
- ClinVar RCV000544207
- ClinGen CA379960120
- Uncertain significance
- Anophthalmia-microphthalmia syndrome; Autosomal dominant keratitis; carboxymethy
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- MetaLR 0.92
- MetaSVM 0.87
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.99
- ClinVar: Uncertain significance (Anophthalmia-microphthalmia syndrome; Autosomal dominant keratit)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score 0.0439
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)