E16G (p.Glu16Gly) variant of GALT (P07902)
E16G (p.Glu16Gly) in GALT (P07902) is a missense 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.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD 9-34646751-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.45
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available