S24G (p.Ser24Gly) variant of EED (Polycomb protein EED)
S24G (p.Ser24Gly) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- ExAC rs751488435
- TOPMed rs751488435
- gnomAD rs751488435
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.34
- CADD 24.90
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available