P38R (p.Pro38Arg) variant of SPAST (Spastin)
P38R (p.Pro38Arg) 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 4; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs1041662261
- ClinGen CA16610961
- ClinVar RCV000464226
- ClinVar RCV004668985
- Uncertain significance
- Hereditary spastic paraplegia 4; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.24
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)