R92P (p.Arg92Pro) variant of PAX6 (Paired box protein Pax-6)
R92P (p.Arg92Pro) 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 0.67 / 1. The record also includes published literature and structural context.
R92P (p.Arg92Pro) variant details
- p.Arg92Pro
- rs769095184
- ClinGen CA379958612
- ClinVar RCV000984391
- ExAC rs769095184
- Likely pathogenic
- Aniridia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.16
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.05
- EVE 0.26
- ClinVar: Likely pathogenic (Aniridia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)