R440W (p.Arg440Trp) variant of EYA1 (Protein phosphatase EYA1)
R440W (p.Arg440Trp) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Fraser syndrome; not specified; Otofaciocervical syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R440W (p.Arg440Trp) variant details
- p.Arg440Trp
- rs376931849
- ClinGen CA4779503
- NCI-TCGA Cosmic COSV5816
- ClinVar RCV000219608
- Uncertain significance
- Melnick-Fraser syndrome; not specified; Otofaciocervical syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.78
- MetaLR 0.70
- MetaSVM 0.49
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome; not specified; Otofaciocervical syndrom)
- EBI: Variant of uncertain significance (in BOR1)
- UniProt: Uncertain significance (in BOR1)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)