E54Q (p.Glu54Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
E54Q (p.Glu54Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- 1000Genomes rs1475069366
- TOPMed rs1475069366
- gnomAD rs1475069366
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.72
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available