P24R (p.Pro24Arg) variant of BARD1 (Q99728)
P24R (p.Pro24Arg) in BARD1 (Q99728) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs863224674
- ClinGen CA336143
- ClinVar RCV000196061
- ClinVar RCV000219522
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.24
- CADD 21.40
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance (in dbSNP:rs1048108)
- UniProt: Uncertain significance (in dbSNP:rs1048108)
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)