P21P (p.Pro21Pro) variant of SPG7 (Q9UQ90)
P21P (p.Pro21Pro) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P21P (p.Pro21Pro) variant details
- p.Pro21Pro
- rs932959782
- gnomAD 16-89508480-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.27
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available