H33Q (p.His33Gln) variant of EYS (Protein eyes shut homolog)
H33Q (p.His33Gln) in EYS (Protein eyes shut homolog) 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 0.21 / 1. The record also includes population frequency data.
H33Q (p.His33Gln) variant details
- p.His33Gln
- rs1050556768
- TOPMed rs1050556768
- gnomAD rs1050556768
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.26
- CADD 10.20
- PolyPhen-2 0.05
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available