G77W (p.Gly77Trp) variant of RLBP1 (Retinaldehyde-binding protein 1)
G77W (p.Gly77Trp) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data and structural context.
G77W (p.Gly77Trp) variant details
- p.Gly77Trp
- ExAC rs755885208
- TOPMed rs755885208
- gnomAD rs755885208
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available