N27N (p.Asn27Asn) variant of GALT (P07902)
N27N (p.Asn27Asn) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N27N (p.Asn27Asn) variant details
- p.Asn27Asn
- gnomAD 9-34646785-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 16.90
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available