Q10H (p.Gln10His) variant of CHEK2 (O96017)
Q10H (p.Gln10His) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- TOPMed rs1330700030
- gnomAD rs1330700030
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.12
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available