C28W (p.Cys28Trp) variant of SPAST (Spastin)
C28W (p.Cys28Trp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C28W (p.Cys28Trp) variant details
- p.Cys28Trp
- Ensembl rs2148685255
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available