S75G (p.Ser75Gly) variant of EZH1 (Q92800)
S75G (p.Ser75Gly) 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 0.35 / 1. The record also includes population frequency data and structural context.
S75G (p.Ser75Gly) variant details
- p.Ser75Gly
- ExAC rs768459667
- TOPMed rs768459667
- gnomAD rs768459667
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available