Y111* (p.Tyr111Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
Y111* (p.Tyr111Ter) 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 0.34 / 1. The record also includes population frequency data and structural context.
Y111* (p.Tyr111Ter) variant details
- p.Tyr111Ter
- rs766675673
- ClinGen CA7722324
- ClinVar RCV001075338
- ClinVar RCV001387786
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available