S76* (p.Ser76Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
S76* (p.Ser76Ter) in RLBP1 (Retinaldehyde-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S76* (p.Ser76Ter) variant details
- p.Ser76Ter
- 1000Genomes rs149742128
- ESP rs149742128
- ExAC rs149742128
- TOPMed rs149742128
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available