G555R (p.Gly555Arg) variant of EYA1 (Protein phosphatase EYA1)
G555R (p.Gly555Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Branchiootorenal syndrome 1. The record also includes structural context.
G555R (p.Gly555Arg) variant details
- p.Gly555Arg
- cosmic curated COSV58157
- Likely pathogenic
- Branchiootorenal syndrome 1
- Missense
- ClinVar: Likely pathogenic (Branchiootorenal syndrome 1)
- UniProt: Likely pathogenic
- Structural context available