P25S (p.Pro25Ser) variant of SPAST (Spastin)
P25S (p.Pro25Ser) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- rs758920536
- ClinGen CA1600474
- ClinVar RCV002474440
- ExAC rs758920536
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available