Y56C (p.Tyr56Cys) variant of SLC2A4 (P14672)
Y56C (p.Tyr56Cys) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- TOPMed rs2072420155
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.71
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available