L25F (p.Leu25Phe) variant of RLBP1 (Retinaldehyde-binding protein 1)
L25F (p.Leu25Phe) 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 0.56 / 1. The record also includes population frequency data and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- ExAC rs749519675
- TOPMed rs749519675
- gnomAD rs749519675
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.41
- AlphaMissense 0.25
- MetaLR 0.76
- MetaSVM 0.34
- CADD 24.80
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available