P25L (p.Pro25Leu) variant of SPAST (Spastin)
P25L (p.Pro25Leu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar 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 0.47 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- Ensembl rs1573026974
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available