P27L (p.Pro27Leu) variant of SPAST (Spastin)
P27L (p.Pro27Leu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs1361493550
- ClinGen CA346601321
- cosmic curated COSV10453
- ClinVar RCV001066648
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)