R12S (p.Arg12Ser) variant of SPG7 (Q9UQ90)
R12S (p.Arg12Ser) 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.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 16-89508451-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available