F92S (p.Phe92Ser) variant of EZH1 (Q92800)
F92S (p.Phe92Ser) in EZH1 (Q92800) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
F92S (p.Phe92Ser) variant details
- p.Phe92Ser
- ESP rs372139294
- ExAC rs372139294
- TOPMed rs372139294
- gnomAD rs372139294
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.50
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available