P21T (p.Pro21Thr) variant of CHEK2 (O96017)
P21T (p.Pro21Thr) 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 provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs587782323
- ClinGen CA167812
- cosmic curated COSV10589
- ClinVar RCV000131230
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-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)