Y61H (p.Tyr61His) variant of GBA1 (P04062)
Y61H (p.Tyr61His) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y61H (p.Tyr61His) variant details
- p.Tyr61His
- TOPMed rs1266341749
- gnomAD rs1266341749
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available