S16R (p.Ser16Arg) variant of CHEK2 (O96017)
S16R (p.Ser16Arg) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- rs1426424086
- ClinGen CA411091895
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10010
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.08
- AlphaMissense 0.07
- MetaLR 0.62
- MetaSVM -0.02
- CADD 0.42
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)