R9K (p.Arg9Lys) variant of SPG7 (Q9UQ90)
R9K (p.Arg9Lys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- rs1567889740
- gnomAD 16-89507715-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 3.74
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available