R547G (p.Arg547Gly) variant of EYA1 (Protein phosphatase EYA1)
R547G (p.Arg547Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anterior segment anomalies and cataract. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R547G (p.Arg547Gly) variant details
- p.Arg547Gly
- rs121909197
- ClinGen CA119164
- ClinVar RCV000008398
- UniProt VAR 016868
- Pathogenic
- Anterior segment anomalies and cataract
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.81
- MetaLR 0.83
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.61
- ClinVar: Pathogenic (Anterior segment anomalies and cataract)
- EBI: Pathogenic (in ASA)
- UniProt: Pathogenic (in ASA)
- Structural context available
- Cited in: Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts… (PMID 10655545)