L25V (p.Leu25Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
L25V (p.Leu25Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- rs749519675
- ClinGen CA7722400
- ClinVar RCV001362539
- ExAC rs749519675
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.25
- MetaLR 0.76
- MetaSVM 0.34
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available