E68* (p.Glu68Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
E68* (p.Glu68Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E68* (p.Glu68Ter) variant details
- p.Glu68Ter
- rs1596184582
- ClinGen CA393731000
- ClinVar RCV001956109
- Ensembl rs1596184582
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.11
- PolyPhen-2 0.53
- SIFT 0.10
- EVE 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available