K10N (p.Lys10Asn) variant of SPAST (Spastin)
K10N (p.Lys10Asn) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K10N (p.Lys10Asn) variant details
- p.Lys10Asn
- gnomAD 2-32063861-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.38
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available