A2S (p.Ala2Ser) variant of SPG7 (Q9UQ90)
A2S (p.Ala2Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 16-89508421-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Literature evidence available