R59Q (p.Arg59Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
R59Q (p.Arg59Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs201370327
- ClinGen CA7722368
- ClinVar RCV001999402
- ClinVar RCV002657641
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.53
- CADD 25.80
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)