E13V (p.Glu13Val) variant of BRCA2 (P51587)
E13V (p.Glu13Val) 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 population frequency data.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- Ensembl rs2138698350
- Uncertain significance
- Missense
- REVEL 0.13
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)