R51W (p.Arg51Trp) variant of GALT (P07902)
R51W (p.Arg51Trp) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- gnomAD 9-34647157-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.94
- AlphaMissense 0.90
- MetaLR 1.00
- MetaSVM 0.92
- CADD 28.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available