A81E (p.Ala81Glu) variant of RLBP1 (Retinaldehyde-binding protein 1)
A81E (p.Ala81Glu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A81E (p.Ala81Glu) variant details
- p.Ala81Glu
- ExAC rs767601073
- TOPMed rs767601073
- gnomAD rs767601073
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available