S83F (p.Ser83Phe) variant of EYA1 (Protein phosphatase EYA1)
S83F (p.Ser83Phe) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- ExAC rs748482012
- TOPMed rs748482012
- gnomAD rs748482012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.41
- MetaLR 0.51
- MetaSVM 0.02
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available