E23Q (p.Glu23Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
E23Q (p.Glu23Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- gnomAD rs1378186357
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available