P4P (p.Pro4Pro) variant of SPAST (Spastin)
P4P (p.Pro4Pro) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P4P (p.Pro4Pro) variant details
- p.Pro4Pro
- rs759236371
- gnomAD 2-32063843-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 14.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available