E17D (p.Glu17Asp) variant of RLBP1 (Retinaldehyde-binding protein 1)
E17D (p.Glu17Asp) 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 0.16 / 1. The record also includes population frequency data and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- TOPMed rs1433542598
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.20
- CADD 5.94
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available