S5L (p.Ser5Leu) variant of CHEK2 (O96017)
S5L (p.Ser5Leu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- rs201084748
- ClinGen CA158091
- cosmic curated COSV10740
- ClinVar RCV000120550
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.15
- AlphaMissense 0.19
- MetaLR 0.65
- MetaSVM -0.07
- CADD 14.80
- PolyPhen-2 0.82
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)