R19H (p.Arg19His) variant of RLBP1 (Retinaldehyde-binding protein 1)
R19H (p.Arg19His) 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 0.49 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs375609386
- ClinGen CA274536585
- ClinVar RCV001313541
- ESP rs375609386
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- AlphaMissense 0.41
- MetaLR 0.68
- MetaSVM 0.33
- CADD 22.70
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available