A85E (p.Ala85Glu) variant of RLBP1 (Retinaldehyde-binding protein 1)
A85E (p.Ala85Glu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A85E (p.Ala85Glu) variant details
- p.Ala85Glu
- TOPMed rs1393804387
- gnomAD rs1393804387
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.41
- CADD 16.80
- PolyPhen-2 0.30
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available