P2L (p.Pro2Leu) variant of BARD1 (Q99728)
P2L (p.Pro2Leu) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs1574870182
- ClinGen CA350465514
- cosmic curated COSV99640
- ClinVar RCV001024781
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.19
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)