P27P (p.Pro27Pro) variant of SPG7 (Q9UQ90)
P27P (p.Pro27Pro) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P27P (p.Pro27Pro) variant details
- p.Pro27Pro
- rs753537336
- gnomAD 16-89508498-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0982
- CADD 2.48
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available