S93C (p.Ser93Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
S93C (p.Ser93Cys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S93C (p.Ser93Cys) variant details
- p.Ser93Cys
- ESP rs369763591
- ExAC rs369763591
- TOPMed rs369763591
- gnomAD rs369763591
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.43
- CADD 23.50
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available