Q185L (p.Gln185Leu) variant of EZH1 (Q92800)
Q185L (p.Gln185Leu) in EZH1 (Q92800) 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 0.51 / 1. The record also includes population frequency data and structural context.
Q185L (p.Gln185Leu) variant details
- p.Gln185Leu
- rs1369771439
- NCI-TCGA Cosmic COSV1013
- cosmic curated COSV10133
- TOPMed rs1369771439
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.51
- CADD 22.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available