L118P (p.Leu118Pro) variant of REEP1 (Q9H902)
L118P (p.Leu118Pro) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L118P (p.Leu118Pro) variant details
- p.Leu118Pro
- rs1553461156
- ClinGen CA347716184
- ClinVar RCV001060595
- TOPMed rs1553461156
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.63
- CADD 28.80
- PolyPhen-2 0.82
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)