L24F (p.Leu24Phe) variant of BRCA2 (P51587)
L24F (p.Leu24Phe) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs397507909
- ClinGen CA025017
- ClinVar RCV000577171
- ClinVar RCV001362590
- Uncertain significance
- Missense
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.16
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)