S83C (p.Ser83Cys) variant of EYA1 (Protein phosphatase EYA1)
S83C (p.Ser83Cys) 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 0.53 / 1. The record also includes population frequency data and structural context.
S83C (p.Ser83Cys) variant details
- p.Ser83Cys
- rs748482012
- ClinGen CA4779844
- ClinVar RCV001887425
- ExAC rs748482012
- Uncertain significance
- Melnick-Fraser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.39
- MetaLR 0.51
- MetaSVM -0.00
- CADD 25.80
- PolyPhen-2 1.00
- 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 1.8e-06)
- Structural context available