R9H (p.Arg9His) variant of SPG7 (Q9UQ90)
R9H (p.Arg9His) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- ExAC rs763469858
- gnomAD rs763469858
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available