A17G (p.Ala17Gly) variant of GALT (P07902)
A17G (p.Ala17Gly) in GALT (P07902) is a missense 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.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- gnomAD 9-34646754-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.37
- CADD 17.70
- PolyPhen-2 0.16
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available