G55S (p.Gly55Ser) variant of GALT (P07902)
G55S (p.Gly55Ser) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G55S (p.Gly55Ser) variant details
- p.Gly55Ser
- gnomAD 9-34647169-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available