E60Q (p.Glu60Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
E60Q (p.Glu60Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- ExAC rs760538477
- TOPMed rs760538477
- gnomAD rs760538477
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.28
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available