G37E (p.Gly37Glu) variant of SPAST (Spastin)
G37E (p.Gly37Glu) in SPAST (Spastin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.31
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available