P138H (p.Pro138His) variant of GBA1 (P04062)
P138H (p.Pro138His) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P138H (p.Pro138His) variant details
- p.Pro138His
- ExAC rs759174705
- TOPMed rs759174705
- gnomAD rs759174705
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.33
- SIFT 0.09
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available