S4G (p.Ser4Gly) variant of GALT (P07902)
S4G (p.Ser4Gly) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD 9-34646714-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.30
- CADD 8.21
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available