R19L (p.Arg19Leu) variant of PAX6 (Paired box protein Pax-6)
R19L (p.Arg19Leu) 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 not provided; Irido-corneo-trabecular dysgenesis; Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs2135152943
- ClinGen CA379959636
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53795
- Uncertain significance
- not provided; Irido-corneo-trabecular dysgenesis; Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (not provided; Irido-corneo-trabecular dysgenesis; Aniridia 1)
- EBI: Variant of uncertain significance (in AN1)
- UniProt: Uncertain significance (in AN1)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.249
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)