P31S (p.Pro31Ser) variant of SPG7 (Q9UQ90)
P31S (p.Pro31Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- gnomAD 16-89508508-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available