P4L (p.Pro4Leu) variant of SPAST (Spastin)
P4L (p.Pro4Leu) in SPAST (Spastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ExAC rs751225341
- gnomAD rs751225341
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available