Q60H (p.Gln60His) variant of GALT (P07902)
Q60H (p.Gln60His) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- rs1554709148
- gnomAD 9-34647185-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available