G6E (p.Gly6Glu) variant of SPAST (Spastin)
G6E (p.Gly6Glu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- rs757518655
- ClinGen CA1600453
- ClinVar RCV003063839
- ExAC rs757518655
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)