Q21H (p.Gln21His) variant of EED (Polycomb protein EED)
Q21H (p.Gln21His) in EED (Polycomb protein EED) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- rs1186239339
- gnomAD rs1186239339
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available