S28Y (p.Ser28Tyr) variant of CHEK2 (O96017)
S28Y (p.Ser28Tyr) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S28Y (p.Ser28Tyr) variant details
- p.Ser28Tyr
- rs2146153004
- ClinGen CA411091620
- ClinVar RCV002615529
- ClinVar RCV003368013
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.03
- CADD 17.50
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)