P68R (p.Pro68Arg) variant of GBA1 (P04062)
P68R (p.Pro68Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P68R (p.Pro68Arg) variant details
- p.Pro68Arg
- rs141061530
- ClinGen CA1141820
- ClinVar RCV003228188
- ClinVar RCV004285619
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- CADD 16.00
- PolyPhen-2 0.55
- SIFT 0.10
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available