R98C (p.Arg98Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
R98C (p.Arg98Cys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EBV-positive nodal T- and NK-cell lymphoma. 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.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- rs755688433
- ClinVar RCV004557920
- Likely benign
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available