R87W (p.Arg87Trp) variant of RLBP1 (Retinaldehyde-binding protein 1)
R87W (p.Arg87Trp) 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 Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R87W (p.Arg87Trp) variant details
- p.Arg87Trp
- rs1407254289
- ClinGen CA393730831
- ClinVar RCV003889690
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.59
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available