R7P (p.Arg7Pro) variant of SPAST (Spastin)
R7P (p.Arg7Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs750900931
- ClinGen CA1600456
- ClinVar RCV001897865
- ExAC rs750900931
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.56
- CADD 25.80
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)