P20L (p.Pro20Leu) variant of BARD1 (Q99728)
P20L (p.Pro20Leu) 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; BARD1-related cancer predisposition; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs753686197
- ClinGen CA2090528
- ClinVar RCV000233249
- ClinVar RCV000774689
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; BARD1-related cancer predisposition; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.20
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; BARD1-related cancer pr)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- 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)