Y52N (p.Tyr52Asn) variant of SLC2A1 (P11166)
Y52N (p.Tyr52Asn) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
Y52N (p.Tyr52Asn) variant details
- p.Tyr52Asn
- rs1643485509
- ClinGen CA339962412
- ClinVar RCV001310847
- Ensembl rs1643485509
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.15
- MetaLR 0.29
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available