R440Q (p.Arg440Gln) variant of EYA1 (Protein phosphatase EYA1)
R440Q (p.Arg440Gln) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Melnick-Fraser syndrome; Rare genetic deafness; Otofaciocervical syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R440Q (p.Arg440Gln) variant details
- p.Arg440Gln
- rs121909196
- ClinGen CA254271
- ClinVar RCV000008397
- ClinVar RCV000844628
- Pathogenic/Likely pathogenic
- Melnick-Fraser syndrome; Rare genetic deafness; Otofaciocervical syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.49
- MetaLR 0.69
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (Melnick-Fraser syndrome; Rare genetic deafness; Otofaciocervical)
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Structural context available
- Cited in: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and… (PMID 10464653)
- Cited in: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal… (PMID 21280147)