A85T (p.Ala85Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
A85T (p.Ala85Thr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- TOPMed rs1447479751
- gnomAD rs1447479751
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.32
- CADD 18.20
- PolyPhen-2 0.25
- SIFT 0.47
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available