H47Y (p.His47Tyr) variant of GALT (P07902)
H47Y (p.His47Tyr) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
H47Y (p.His47Tyr) variant details
- p.His47Tyr
- gnomAD 9-34647145-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.90
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available