A30D (p.Ala30Asp) variant of SPAST (Spastin)
A30D (p.Ala30Asp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 2-32063920-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available