Q56H (p.Gln56His) variant of GALT (P07902)
Q56H (p.Gln56His) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q56H (p.Gln56His) variant details
- p.Gln56His
- gnomAD 9-34647174-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.78
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available