D45G (p.Asp45Gly) variant of LEPR (Leptin receptor)
D45G (p.Asp45Gly) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60765
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available