E55D (p.Glu55Asp) variant of RPE65 (Retinoid isomerohydrolase)
E55D (p.Glu55Asp) in RPE65 (Retinoid isomerohydrolase) 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 0.43 / 1. The record also includes population frequency data and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- ESP rs375272714
- ExAC rs375272714
- TOPMed rs375272714
- gnomAD rs375272714
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.47
- MetaLR 0.45
- MetaSVM -0.55
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.39
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available