R13Q (p.Arg13Gln) variant of SPG7 (Q9UQ90)
R13Q (p.Arg13Gln) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- gnomAD 16-89508455-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0755
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available