R23T (p.Arg23Thr) variant of SPAST (Spastin)
R23T (p.Arg23Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R23T (p.Arg23Thr) variant details
- p.Arg23Thr
- gnomAD 2-32063899-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available