Y50H (p.Tyr50His) variant of GBA1 (P04062)
Y50H (p.Tyr50His) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- ExAC rs775652188
- gnomAD rs775652188
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.36
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.94
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available