R64G (p.Arg64Gly) variant of RLBP1 (Retinaldehyde-binding protein 1)
R64G (p.Arg64Gly) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R64G (p.Arg64Gly) variant details
- p.Arg64Gly
- 1000Genomes rs561618945
- ExAC rs561618945
- TOPMed rs561618945
- gnomAD rs561618945
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.36
- AlphaMissense 0.09
- MetaLR 0.47
- MetaSVM -0.20
- CADD 23.00
- PolyPhen-2 0.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available