V20A (p.Val20Ala) variant of SPAST (Spastin)
V20A (p.Val20Ala) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 2-32063890-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.30
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available