A32P (p.Ala32Pro) variant of SPAST (Spastin)
A32P (p.Ala32Pro) in SPAST (Spastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- cosmic curated COSV10965
- gnomAD rs1676391613
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available