A28P (p.Ala28Pro) variant of SPG7 (Q9UQ90)
A28P (p.Ala28Pro) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- ExAC rs757013711
- gnomAD rs757013711
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 13.00
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available