G94R (p.Gly94Arg) variant of RLBP1 (Retinaldehyde-binding protein 1)
G94R (p.Gly94Arg) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G94R (p.Gly94Arg) variant details
- p.Gly94Arg
- ExAC rs773859532
- TOPMed rs773859532
- gnomAD rs773859532
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- CADD 16.70
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available