E90D (p.Glu90Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
E90D (p.Glu90Asp) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- TOPMed rs2051588216
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available