K9N (p.Lys9Asn) variant of SPAST (Spastin)
K9N (p.Lys9Asn) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K9N (p.Lys9Asn) variant details
- p.Lys9Asn
- gnomAD 2-32063858-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available