P76L (p.Pro76Leu) variant of PAX6 (Paired box protein Pax-6)
P76L (p.Pro76Leu) 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; Irido-corneo-trabecular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- rs2135096558
- ClinGen CA379958806
- cosmic curated COSV10501
- ClinVar RCV001966495
- Likely pathogenic
- Aniridia 1; Irido-corneo-trabecular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)