R242T (p.Arg242Thr) variant of PAX6 (Paired box protein Pax-6)
R242T (p.Arg242Thr) 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 Aniridia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R242T (p.Arg242Thr) variant details
- p.Arg242Thr
- rs121907927
- ClinGen CA252802
- ClinVar RCV000003649
- UniProt VAR 047866
- Pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Aniridia 1)
- EBI: Pathogenic (in AN1)
- UniProt: Pathogenic (in AN1)
- Population evidence available
- Structural context available
- Cited in: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. (PMID 11826019)
- Cited in: Molecular analysis of a human PAX6 homeobox mutant. (PMID 16493447)