G5R (p.Gly5Arg) variant of GALT (P07902)
G5R (p.Gly5Arg) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD rs1402006997
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available