G76D (p.Gly76Asp) variant of LEPR (Leptin receptor)
G76D (p.Gly76Asp) in LEPR (Leptin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- rs748033432
- NCI-TCGA Cosmic COSV6074
- cosmic curated COSV60747
- NCI-TCGA Cosmic COSV9905
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0492
- REVEL 0.04
- CADD 0.81
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available