T100M (p.Thr100Met) variant of GBA1 (P04062)
T100M (p.Thr100Met) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T100M (p.Thr100Met) variant details
- p.Thr100Met
- cosmic curated COSV10882
- ExAC rs757848523
- TOPMed rs757848523
- gnomAD rs757848523
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available