P95S (p.Pro95Ser) variant of EYA1 (Protein phosphatase EYA1)
P95S (p.Pro95Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BOR1. The record also includes published literature and structural context.
P95S (p.Pro95Ser) variant details
- p.Pro95Ser
- cosmic curated COSV10515
- UniProt VAR 064942
- Pathogenic
- in BOR1
- Missense
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Structural context available
- Cited in: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal… (PMID 21280147)
- Cited in: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and… (PMID 10464653)