M1L (p.Met1Leu) variant of RLBP1 (Retinaldehyde-binding protein 1)
M1L (p.Met1Leu) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2051605586
- ClinGen CA393731961
- ClinVar RCV002049836
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 0.52
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available