R64Q (p.Arg64Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
R64Q (p.Arg64Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Newfoundland cone-rod dystrophy; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs201865787
- ClinGen CA7722362
- ClinVar RCV000265453
- ClinVar RCV000305613
- Conflicting interpretations
- not provided; Newfoundland cone-rod dystrophy; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- CADD 14.50
- PolyPhen-2 0.14
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Newfoundland cone-rod dystrophy; Retinitis pigment)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)