P36A (p.Pro36Ala) variant of RLBP1 (Retinaldehyde-binding protein 1)
P36A (p.Pro36Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- 1000Genomes rs544204108
- ExAC rs544204108
- TOPMed rs544204108
- gnomAD rs544204108
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.15
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available