P33A (p.Pro33Ala) variant of SPAST (Spastin)
P33A (p.Pro33Ala) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P33A (p.Pro33Ala) variant details
- p.Pro33Ala
- rs1403480959
- ClinGen CA346601353
- ClinVar RCV002263201
- ClinVar RCV003633607
- Conflicting interpretations
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.23
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 4; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)