S5F (p.Ser5Phe) variant of BRCA2 (P51587)
S5F (p.Ser5Phe) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- Ensembl rs2138698078
- Likely benign
- Missense
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.93
- CADD 22.40
- PolyPhen-2 0.89
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)