R34C (p.Arg34Cys) variant of SLC35A2 (UDP-galactose translocator)
R34C (p.Arg34Cys) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.19
- CADD 26.40
- PolyPhen-2 0.54
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00027)
- Structural context available