A36A (p.Ala36Ala) variant of SPAST (Spastin)
A36A (p.Ala36Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A36A (p.Ala36Ala) variant details
- p.Ala36Ala
- rs1261214882
- gnomAD 2-32063939-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 13.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available