A72D (p.Ala72Asp) variant of GBA1 (P04062)
A72D (p.Ala72Asp) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- ExAC rs750990483
- TOPMed rs750990483
- gnomAD rs750990483
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.26
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available