R13P (p.Arg13Pro) variant of SPG7 (Q9UQ90)
R13P (p.Arg13Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- rs539971364
- gnomAD 16-89507727-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 1.61
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available