N72Q (p.Asn72Gln) variant of GALT (P07902)
N72Q (p.Asn72Gln) in GALT (P07902) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N72Q (p.Asn72Gln) variant details
- p.Asn72Gln
- gnomAD 9-34647218-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 24.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available