P19R (p.Pro19Arg) variant of SPG7 (Q9UQ90)
P19R (p.Pro19Arg) 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 and structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- Ensembl rs2152392865
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 6.42
- PolyPhen-2 0.02
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available