R58C (p.Arg58Cys) variant of SLC35A2 (UDP-galactose translocator)
R58C (p.Arg58Cys) 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 0.68 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs1171450247
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99900
- TOPMed rs1171450247
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.63
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available