D7G (p.Asp7Gly) variant of GALT (P07902)
D7G (p.Asp7Gly) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- gnomAD 9-34646724-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.40
- CADD 1.43
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available