G15C (p.Gly15Cys) variant of SPAST (Spastin)
G15C (p.Gly15Cys) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- gnomAD 2-32063874-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.67
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available