R101C (p.Arg101Cys) variant of RLBP1 (Retinaldehyde-binding protein 1)
R101C (p.Arg101Cys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- TOPMed rs1370201404
- gnomAD rs1370201404
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available