G5R (p.Gly5Arg) variant of SPAST (Spastin)
G5R (p.Gly5Arg) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD 2-32063844-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- CADD 24.70
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available