G23D (p.Gly23Asp) variant of CHEK2 (O96017)
G23D (p.Gly23Asp) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs1601853772
- ClinGen CA411091731
- ClinVar RCV001025783
- ClinVar RCV001862342
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.38
- AlphaMissense 0.11
- MetaLR 0.83
- MetaSVM 0.29
- CADD 21.90
- PolyPhen-2 0.54
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)