L24V (p.Leu24Val) variant of BRCA2 (P51587)
L24V (p.Leu24Val) 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 and published literature.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- rs2072283918
- ClinGen CA387754020
- ClinVar RCV001047308
- Ensembl rs2072283918
- Uncertain significance
- Missense
- AlphaMissense 0.14
- MetaLR 0.01
- MetaSVM -1.04
- SIFT 0.00
- MutPred 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)