P4R (p.Pro4Arg) variant of SPAST (Spastin)
P4R (p.Pro4Arg) 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; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs751225341
- ClinGen CA1600449
- ClinVar RCV002933161
- ClinVar RCV004774760
- Uncertain significance
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.54
- CADD 25.90
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)