E65A (p.Glu65Ala) variant of RLBP1 (Retinaldehyde-binding protein 1)
E65A (p.Glu65Ala) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E65A (p.Glu65Ala) variant details
- p.Glu65Ala
- ExAC rs776927343
- TOPMed rs776927343
- gnomAD rs776927343
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.25
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available