P25A (p.Pro25Ala) variant of SPG7 (Q9UQ90)
P25A (p.Pro25Ala) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- TOPMed rs1379498694
- gnomAD rs1379498694
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available