Q54K (p.Gln54Lys) variant of GALT (P07902)
Q54K (p.Gln54Lys) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q54K (p.Gln54Lys) variant details
- p.Gln54Lys
- gnomAD 9-34647166-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.51
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available