L24S (p.Leu24Ser) variant of BRCA2 (P51587)
L24S (p.Leu24Ser) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
L24S (p.Leu24Ser) variant details
- p.Leu24Ser
- Ensembl rs397507902
- Pathogenic
- Missense
- REVEL 0.15
- AlphaMissense 0.64
- MetaLR 0.04
- MetaSVM -1.19
- CADD 26.20
- PolyPhen-2 0.89
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)