H6Q (p.His6Gln) variant of SUZ12 (Polycomb protein SUZ12)
H6Q (p.His6Gln) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- rs760726816
- ExAC rs760726816
- TOPMed rs760726816
- gnomAD rs760726816
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.15
- MetaLR 0.32
- MetaSVM -0.45
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available