P25P (p.Pro25Pro) variant of SPG7 (Q9UQ90)
P25P (p.Pro25Pro) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- rs760168945
- gnomAD 16-89508492-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.12
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available