A2D (p.Ala2Asp) variant of SPG7 (Q9UQ90)
A2D (p.Ala2Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- TOPMed rs973170664
- gnomAD rs973170664
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 23.50
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)