R9C (p.Arg9Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
R9C (p.Arg9Cys) 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; Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs775252439
- ClinGen CA7722406
- ClinVar RCV000596579
- ClinVar RCV002250668
- Conflicting interpretations
- not provided; Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.66
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bothnia retinal dystrophy; Newfoundland cone-rod d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)