P27R (p.Pro27Arg) variant of SPG7 (Q9UQ90)
P27R (p.Pro27Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs878854605
- ClinGen CA10583433
- ClinVar RCV000231137
- ClinVar RCV003243025
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- AlphaMissense 0.07
- MetaLR 0.53
- MetaSVM -0.48
- CADD 1.72
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)