R9L (p.Arg9Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
R9L (p.Arg9Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- rs201258558
- ClinGen CA274536627
- ClinVar RCV001361556
- ESP rs201258558
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available