K11R (p.Lys11Arg) variant of SPAST (Spastin)
K11R (p.Lys11Arg) 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 and structural context.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- TOPMed rs1201815863
- gnomAD rs1201815863
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available