L9F (p.Leu9Phe) variant of PALB2 (Partner and localizer of BRCA2)
L9F (p.Leu9Phe) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial pancreatic carcinoma; Hereditary breast ovarian cancer syndrome; Heredi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- rs1060502744
- ClinGen CA16614884
- ClinVar RCV000464168
- ClinVar RCV000566603
- Uncertain significance
- Familial pancreatic carcinoma; Hereditary breast ovarian cancer syndrome; Heredi
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.14
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial pancreatic carcinoma; Hereditary breast ovarian cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)