N18N (p.Asn18Asn) variant of SPAST (Spastin)
N18N (p.Asn18Asn) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N18N (p.Asn18Asn) variant details
- p.Asn18Asn
- rs1558605352
- gnomAD 2-32063885-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available