R9P (p.Arg9Pro) variant of SPG7 (Q9UQ90)
R9P (p.Arg9Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- ExAC rs763469858
- gnomAD rs763469858
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 21.60
- PolyPhen-2 0.32
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available