A30G (p.Ala30Gly) variant of SPAST (Spastin)
A30G (p.Ala30Gly) in SPAST (Spastin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- ExAC rs781516235
- TOPMed rs781516235
- gnomAD rs781516235
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available