A35S (p.Ala35Ser) variant of SPAST (Spastin)
A35S (p.Ala35Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- 1000Genomes rs560002466
- ExAC rs560002466
- gnomAD rs560002466
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.22
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available