W23R (p.Trp23Arg) variant of SPG7 (Q9UQ90)
W23R (p.Trp23Arg) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
W23R (p.Trp23Arg) variant details
- p.Trp23Arg
- TOPMed rs1419170613
- gnomAD rs1419170613
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available