G8R (p.Gly8Arg) variant of LEP (Leptin)
G8R (p.Gly8Arg) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs200092598
- ClinGen CA4469618
- NCI-TCGA Cosmic COSV5824
- ClinVar RCV003419235
- Uncertain significance
- LEP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.14
- CADD 2.67
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (LEP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available