E86* (p.Glu86Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
E86* (p.Glu86Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E86* (p.Glu86Ter) variant details
- p.Glu86Ter
- Ensembl rs2051588463
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 36.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available