P15S (p.Pro15Ser) variant of SPG7 (Q9UQ90)
P15S (p.Pro15Ser) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs757046310
- ClinGen CA286519206
- ClinVar RCV003884323
- TOPMed rs757046310
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available