R64C (p.Arg64Cys) variant of SLC35A2 (UDP-galactose translocator)
R64C (p.Arg64Cys) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- TOPMed rs2063519190
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.29
- CADD 25.10
- PolyPhen-2 0.79
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available