R12H (p.Arg12His) variant of SPG7 (Q9UQ90)
R12H (p.Arg12His) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- TOPMed rs2057959338
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available