L57P (p.Leu57Pro) variant of PAX6 (Paired box protein Pax-6)
L57P (p.Leu57Pro) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs1592545972
- ClinGen CA379959055
- ClinVar RCV000984381
- Ensembl rs1592545972
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)