R98H (p.Arg98His) variant of RLBP1 (Retinaldehyde-binding protein 1)
R98H (p.Arg98His) 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 0.89 / 1. The record also includes population frequency data and structural context.
R98H (p.Arg98His) variant details
- p.Arg98His
- rs745721289
- ClinGen CA7722330
- ClinVar RCV001305325
- ExAC rs745721289
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available