L29V (p.Leu29Val) variant of BRCA2 (P51587)
L29V (p.Leu29Val) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- rs1424422846
- ClinGen CA387754079
- ClinVar RCV000575119
- ClinVar RCV001338520
- Pathogenic
- Missense
- REVEL 0.11
- AlphaMissense 0.23
- MetaLR 0.02
- MetaSVM -1.09
- CADD 24.10
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)