V25I (p.Val25Ile) variant of CHEK2 (O96017)
V25I (p.Val25Ile) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs142243299
- ClinGen CA164058
- cosmic curated COSV60420
- ClinVar RCV000129252
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.0738
- REVEL 0.08
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)