P67S (p.Pro67Ser) variant of GLG1 (Golgi apparatus protein 1)
P67S (p.Pro67Ser) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- TOPMed rs1475972942
- gnomAD rs1475972942
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.97
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available