A35V (p.Ala35Val) variant of SPAST (Spastin)
A35V (p.Ala35Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- gnomAD 2-32063935-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.20
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available