E3V (p.Glu3Val) variant of PALB2 (Partner and localizer of BRCA2)
E3V (p.Glu3Val) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- Ensembl rs2142481773
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.07
- MetaSVM -1.06
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available