S487P (p.Ser487Pro) variant of EYA1 (Protein phosphatase EYA1)
S487P (p.Ser487Pro) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Melnick-Fraser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S487P (p.Ser487Pro) variant details
- p.Ser487Pro
- rs121909200
- ClinGen CA254274
- ClinVar RCV000008402
- ClinVar RCV003593858
- Pathogenic
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.72
- MetaLR 0.88
- MetaSVM 0.91
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Pathogenic (Melnick-Fraser syndrome)
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR)… (PMID 9361030)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)