Q71R (p.Gln71Arg) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q71R (p.Gln71Arg) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- rs913607874
- ClinGen CA274535594
- ClinVar RCV001342516
- ClinVar RCV004815407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.27
- CADD 8.56
- PolyPhen-2 0.01
- SIFT 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available