Q13H (p.Gln13His) variant of GALT (P07902)
Q13H (p.Gln13His) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q13H (p.Gln13His) variant details
- p.Gln13His
- gnomAD 9-34646743-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available