L87R (p.Leu87Arg) variant of REEP1 (Q9H902)
L87R (p.Leu87Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
L87R (p.Leu87Arg) variant details
- p.Leu87Arg
- rs2104244362
- ClinGen CA347717200
- ClinVar RCV001391640
- Ensembl rs2104244362
- Pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hereditary spastic paraplegia 31)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available