V34E (p.Val34Glu) variant of AQP7 (Aquaporin-7)
V34E (p.Val34Glu) in AQP7 (Aquaporin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EBV-positive nodal T- and NK-cell lymphoma. The record also includes population frequency data and structural context.
V34E (p.Val34Glu) variant details
- p.Val34Glu
- rs2381004
- cosmic curated COSV53007
- ClinVar RCV004557739
- ExAC rs2381004
- Likely benign
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- ClinVar: Likely benign (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available