R103Q (p.Arg103Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
R103Q (p.Arg103Gln) 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 0.76 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs1422832116
- ClinGen CA393730733
- ClinVar RCV001340430
- TOPMed rs1422832116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.74
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available