S8N (p.Ser8Asn) variant of EYA1 (Protein phosphatase EYA1)
S8N (p.Ser8Asn) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Branchiootorenal syndrome 1; Melnick-Fraser syndrome; Branchiootic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- TOPMed rs1393157586
- gnomAD rs1393157586
- Conflicting interpretations
- Branchiootorenal syndrome 1; Melnick-Fraser syndrome; Branchiootic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.50
- MetaLR 0.79
- MetaSVM 0.70
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Branchiootorenal syndrome 1; Melnick-Fraser syndrome; Branchioot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available