P24H (p.Pro24His) variant of SPAST (Spastin)
P24H (p.Pro24His) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 2-32063902-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available