L32V (p.Leu32Val) variant of PAX6 (Paired box protein Pax-6)
L32V (p.Leu32Val) 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 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs1592563721
- ClinGen CA379959557
- ClinVar RCV000984360
- Ensembl rs1592563721
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.851
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)