A30S (p.Ala30Ser) variant of SPAST (Spastin)
A30S (p.Ala30Ser) 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 and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD rs1676390895
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available