Y18C (p.Tyr18Cys) variant of SLC30A8 (Q8IWU4)
Y18C (p.Tyr18Cys) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- 1000Genomes rs534016412
- ExAC rs534016412
- TOPMed rs534016412
- gnomAD rs534016412
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.26
- CADD 24.90
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available