P21S (p.Pro21Ser) variant of CHEK2 (O96017)
P21S (p.Pro21Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs587782323
- ClinGen CA411091777
- cosmic curated COSV10524
- ClinVar RCV002353846
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0943
- REVEL 0.11
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)