R12C (p.Arg12Cys) variant of SPG7 (Q9UQ90)
R12C (p.Arg12Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- TOPMed rs1038946809
- gnomAD rs1038946809
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available