E100K (p.Glu100Lys) variant of REEP1 (Q9H902)
E100K (p.Glu100Lys) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- rs2104243924
- ClinGen CA347716943
- ClinVar RCV002248153
- ClinVar RCV003093994
- Uncertain significance
- not specified; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (not specified; 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)