L7V (p.Leu7Val) variant of SETD5 (Q9C0A6)
L7V (p.Leu7Val) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SETD5-related disorder. The record also includes structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs2472288060
- ClinGen CA351678991
- ClinVar RCV004550777
- Uncertain significance
- SETD5-related disorder
- Missense
- ClinVar: Uncertain significance (SETD5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available