Q54Q (p.Gln54Gln) variant of GALT (P07902)
Q54Q (p.Gln54Gln) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q54Q (p.Gln54Gln) variant details
- p.Gln54Gln
- rs766778777
- gnomAD 9-34647168-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 13.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available