G77R (p.Gly77Arg) variant of RLBP1 (Retinaldehyde-binding protein 1)
G77R (p.Gly77Arg) 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 not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- rs755885208
- ExAC rs755885208
- TOPMed rs755885208
- gnomAD rs755885208
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available