G37W (p.Gly37Trp) variant of SPAST (Spastin)
G37W (p.Gly37Trp) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G37W (p.Gly37Trp) variant details
- p.Gly37Trp
- rs771455657
- ClinGen CA346601373
- cosmic curated COSV59518
- ClinVar RCV001391567
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available