T69I (p.Thr69Ile) variant of GBA1 (P04062)
T69I (p.Thr69Ile) in GBA1 (P04062) is a missense change. 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.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- ExAC rs757834551
- TOPMed rs757834551
- gnomAD rs757834551
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.32
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available