P22S (p.Pro22Ser) variant of SPAST (Spastin)
P22S (p.Pro22Ser) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- ExAC rs762209469
- TOPMed rs762209469
- gnomAD rs762209469
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available