R19L (p.Arg19Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
R19L (p.Arg19Leu) 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 0.66 / 1. The record also includes structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs375609386
- ClinGen CA393731833
- ClinVar RCV002010909
- ESP rs375609386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.41
- MetaLR 0.68
- MetaSVM 0.33
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available