S13A (p.Ser13Ala) variant of SPAST (Spastin)
S13A (p.Ser13Ala) 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 0.42 / 1. The record also includes population frequency data and structural context.
S13A (p.Ser13Ala) variant details
- p.Ser13Ala
- ExAC rs781222498
- TOPMed rs781222498
- gnomAD rs781222498
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.33
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available