G15R (p.Gly15Arg) variant of SPAST (Spastin)
G15R (p.Gly15Arg) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- gnomAD rs1319401583
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.52
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available