L20W (p.Leu20Trp) variant of SDHD (O14521)
L20W (p.Leu20Trp) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
L20W (p.Leu20Trp) variant details
- p.Leu20Trp
- TOPMed rs1865651130
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available