S73N (p.Ser73Asn) variant of EYA1 (Protein phosphatase EYA1)
S73N (p.Ser73Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S73N (p.Ser73Asn) variant details
- p.Ser73Asn
- rs1429110987
- ClinGen CA371469024
- ClinVar RCV002972008
- TOPMed rs1429110987
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.02
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available