C28Y (p.Cys28Tyr) variant of SPAST (Spastin)
C28Y (p.Cys28Tyr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- gnomAD 2-32063914-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available