N18K (p.Asn18Lys) variant of SPAST (Spastin)
N18K (p.Asn18Lys) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- gnomAD 2-32063885-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available