P68L (p.Pro68Leu) variant of GBA1 (P04062)
P68L (p.Pro68Leu) in GBA1 (P04062) 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 0.29 / 1. The record also includes population frequency data and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- ESP rs141061530
- ExAC rs141061530
- TOPMed rs141061530
- gnomAD rs141061530
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.25
- CADD 7.31
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available