R98P (p.Arg98Pro) variant of RLBP1 (Retinaldehyde-binding protein 1)
R98P (p.Arg98Pro) 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 0.90 / 1. The record also includes population frequency data and structural context.
R98P (p.Arg98Pro) variant details
- p.Arg98Pro
- ExAC rs745721289
- TOPMed rs745721289
- gnomAD rs745721289
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available