G77E (p.Gly77Glu) variant of RLBP1 (Retinaldehyde-binding protein 1)
G77E (p.Gly77Glu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G77E (p.Gly77Glu) variant details
- p.Gly77Glu
- rs750355323
- NCI-TCGA Cosmic COSV5152
- ExAC rs750355323
- TOPMed rs750355323
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available