S9F (p.Ser9Phe) variant of EZH1 (Q92800)
S9F (p.Ser9Phe) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs867508196
- ClinGen CA290780985
- ClinVar RCV004119906
- TOPMed rs867508196
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.66
- CADD 25.20
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available