S19C (p.Ser19Cys) variant of EYA1 (Protein phosphatase EYA1)
S19C (p.Ser19Cys) 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 0.46 / 1. The record also includes population frequency data and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- rs2129069830
- ClinGen CA371529501
- ClinVar RCV001910373
- Ensembl rs2129069830
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.55
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Fraser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available