G37R (p.Gly37Arg) variant of SPAST (Spastin)
G37R (p.Gly37Arg) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- rs771455657
- ClinGen CA1600487
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Conflicting interpretations
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.28
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)