T112M (p.Thr112Met) variant of SLC35A2 (UDP-galactose translocator)
T112M (p.Thr112Met) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T112M (p.Thr112Met) variant details
- p.Thr112Met
- rs1557043139
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54429
- gnomAD rs1557043139
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.41
- AlphaMissense 0.08
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available