E67V (p.Glu67Val) variant of REEP1 (Q9H902)
E67V (p.Glu67Val) 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 published literature and structural context.
E67V (p.Glu67Val) variant details
- p.Glu67Val
- rs1553461506
- ClinGen CA347717601
- ClinVar RCV000641688
- Ensembl rs1553461506
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.98
- MetaLR 0.86
- MetaSVM 0.83
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (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)