E57Q (p.Glu57Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
E57Q (p.Glu57Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- gnomAD rs2051590420
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.49
- CADD 25.80
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available