L19R (p.Leu19Arg) variant of LAMP2 (P13473)
L19R (p.Leu19Arg) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- rs397516745
- ClinGen CA134140
- ClinVar RCV000037421
- Ensembl rs397516745
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.34
- MetaLR 0.27
- MetaSVM -0.45
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance