S2* (p.Ser2Ter) variant of RLBP1 (Retinaldehyde-binding protein 1)
S2* (p.Ser2Ter) 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 0.84 / 1. The record also includes population frequency data and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- rs1212807954
- ClinGen CA393731952
- ClinVar RCV003670367
- gnomAD rs1212807954
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available