L118R (p.Leu118Arg) variant of REEP1 (Q9H902)
L118R (p.Leu118Arg) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L118R (p.Leu118Arg) variant details
- p.Leu118Arg
- rs1553461156
- ClinGen CA347716180
- ClinVar RCV000641691
- TOPMed rs1553461156
- Likely pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.63
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.29
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 31)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)