N18I (p.Asn18Ile) variant of SPAST (Spastin)
N18I (p.Asn18Ile) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N18I (p.Asn18Ile) variant details
- p.Asn18Ile
- Ensembl rs1676387120
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available