P4A (p.Pro4Ala) variant of SPAST (Spastin)
P4A (p.Pro4Ala) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs937319046
- ClinGen CA346601190
- ClinVar RCV001848141
- TOPMed rs937319046
- Uncertain significance
- Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)