P34P (p.Pro34Pro) variant of SPAST (Spastin)
P34P (p.Pro34Pro) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P34P (p.Pro34Pro) variant details
- p.Pro34Pro
- rs1304986567
- gnomAD 2-32063933-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 14.20
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available