D7I (p.Asp7Ile) variant of GALT (P07902)
D7I (p.Asp7Ile) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D7I (p.Asp7Ile) variant details
- p.Asp7Ile
- rs111033638
- gnomAD 9-34646720-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Neonatal screening, clinical features and genetic testing for galactosemia. (PMID 15775761)