P17R (p.Pro17Arg) variant of SPG7 (Q9UQ90)
P17R (p.Pro17Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- rs956304326
- ClinGen CA397415890
- ClinVar RCV001848241
- ClinVar RCV001885411
- Uncertain significance
- Hereditary spastic paraplegia 7; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 7.55
- PolyPhen-2 0.05
- SIFT 0.40
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7; not provided; Hereditary spasti)
- 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)
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)