S119R (p.Ser119Arg) variant of PAX6 (Paired box protein Pax-6)
S119R (p.Ser119Arg) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
S119R (p.Ser119Arg) variant details
- p.Ser119Arg
- rs121907928
- ClinGen CA252805
- NCI-TCGA Cosmic COSV5379
- NCI-TCGA Cosmic COSV9957
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Aniridia 1; Irido-corneo-trabecular dysgenesis)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Population evidence available
- Structural context available
- Cited in: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. (PMID 11553050)
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)