P36Q (p.Pro36Gln) variant of RLBP1 (Retinaldehyde-binding protein 1)
P36Q (p.Pro36Gln) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- ESP rs200143313
- TOPMed rs200143313
- gnomAD rs200143313
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.18
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available