R48H (p.Arg48His) variant of GALT (P07902)
R48H (p.Arg48His) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- ExAC rs773683290
- gnomAD rs773683290
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available