A16G (p.Ala16Gly) variant of SPAST (Spastin)
A16G (p.Ala16Gly) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 2-32063878-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available