Y55C (p.Tyr55Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
Y55C (p.Tyr55Cys) in SLC5A2 (Sodium/glucose cotransporter 2) 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 0.82 / 1. The record also includes population frequency data and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- TOPMed rs1050395028
- gnomAD rs1050395028
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available