P15A (p.Pro15Ala) variant of SPG7 (Q9UQ90)
P15A (p.Pro15Ala) in SPG7 (Q9UQ90) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- TOPMed rs757046310
- gnomAD rs757046310
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available