P22T (p.Pro22Thr) variant of SPAST (Spastin)
P22T (p.Pro22Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 2-32063895-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available