A102S (p.Ala102Ser) variant of RLBP1 (Retinaldehyde-binding protein 1)
A102S (p.Ala102Ser) 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 0.77 / 1. The record also includes population frequency data and structural context.
A102S (p.Ala102Ser) variant details
- p.Ala102Ser
- ESP rs143121722
- ExAC rs143121722
- TOPMed rs143121722
- gnomAD rs143121722
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.83
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available