R19C (p.Arg19Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
R19C (p.Arg19Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs369127471
- ClinGen CA274536587
- ClinVar RCV003889691
- ESP rs369127471
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.54
- CADD 28.10
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available