V20M (p.Val20Met) variant of SPAST (Spastin)
V20M (p.Val20Met) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- gnomAD 2-32063889-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available