V3M (p.Val3Met) variant of SPG7 (Q9UQ90)
V3M (p.Val3Met) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- gnomAD 16-89508424-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available