P19P (p.Pro19Pro) variant of SPG7 (Q9UQ90)
P19P (p.Pro19Pro) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P19P (p.Pro19Pro) variant details
- p.Pro19Pro
- rs1555608404
- gnomAD 16-89508474-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.36
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available