S13S (p.Ser13Ser) variant of SPAST (Spastin)
S13S (p.Ser13Ser) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- rs769680370
- gnomAD 2-32063870-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 14.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available