L29R (p.Leu29Arg) variant of BRCA2 (P51587)
L29R (p.Leu29Arg) 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.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- rs1135401889
- ClinGen CA387754086
- ClinVar RCV000496931
- Ensembl rs1135401889
- Uncertain significance
- Missense
- AlphaMissense 0.36
- MetaLR 0.02
- MetaSVM -1.13
- SIFT 0.00
- MutPred 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance