Q73* (p.Gln73Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
Q73* (p.Gln73Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q73* (p.Gln73Ter) variant details
- p.Gln73Ter
- Ensembl rs2150971301
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 36.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available