L68P (p.Leu68Pro) variant of REEP1 (Q9H902)
L68P (p.Leu68Pro) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- rs2104244891
- ClinGen CA347717585
- ClinVar RCV001508449
- ClinVar RCV001865942
- Uncertain significance
- not provided; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)