D69G (p.Asp69Gly) variant of GALT (P07902)
D69G (p.Asp69Gly) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D69G (p.Asp69Gly) variant details
- p.Asp69Gly
- gnomAD 9-34647212-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available