R42H (p.Arg42His) variant of RLBP1 (Retinaldehyde-binding protein 1)
R42H (p.Arg42His) 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 0.25 / 1. The record also includes population frequency data and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs142495448
- ClinGen CA7722389
- ClinVar RCV001925486
- 1000Genomes rs142495448
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.21
- CADD 16.70
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available