R151Q (p.Arg151Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
R151Q (p.Arg151Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RLBP1-related disorder; Newfoundland cone-rod dystrophy; Bothnia retinal dystrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R151Q (p.Arg151Gln) variant details
- p.Arg151Gln
- rs137853290
- ClinGen CA122838
- ClinVar RCV000013973
- ClinVar RCV000013974
- Pathogenic
- RLBP1-related disorder; Newfoundland cone-rod dystrophy; Bothnia retinal dystrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.76
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic (RLBP1-related disorder; Newfoundland cone-rod dystrophy; Bothnia)
- EBI: Pathogenic (in RPA)
- UniProt: Pathogenic (in RPA)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. (PMID 11453974)
- Cited in: Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. (PMID 9326942)