V20V (p.Val20Val) variant of SPAST (Spastin)
V20V (p.Val20Val) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs752272987
- gnomAD 2-32063891-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 13.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available