S13P (p.Ser13Pro) variant of SPAST (Spastin)
S13P (p.Ser13Pro) 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 0.41 / 1. The record also includes population frequency data and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- ExAC rs781222498
- TOPMed rs781222498
- gnomAD rs781222498
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- CADD 23.00
- PolyPhen-2 0.27
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available