S93G (p.Ser93Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
S93G (p.Ser93Gly) 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 0.49 / 1. The record also includes population frequency data and structural context.
S93G (p.Ser93Gly) variant details
- p.Ser93Gly
- rs369763591
- ClinGen CA7722338
- ClinVar RCV001238384
- ESP rs369763591
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.29
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available