S17N (p.Ser17Asn) variant of SPAST (Spastin)
S17N (p.Ser17Asn) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- Ensembl rs1676386884
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available