S93R (p.Ser93Arg) variant of RLBP1 (Retinaldehyde-binding protein 1)
S93R (p.Ser93Arg) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S93R (p.Ser93Arg) variant details
- p.Ser93Arg
- rs985098836
- ClinGen CA274535495
- ClinVar RCV002627334
- Ensembl rs985098836
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.46
- CADD 10.10
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available