P17P (p.Pro17Pro) variant of SPG7 (Q9UQ90)
P17P (p.Pro17Pro) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P17P (p.Pro17Pro) variant details
- p.Pro17Pro
- gnomAD 16-89508468-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0943
- CADD 1.93
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available