Y18D (p.Tyr18Asp) variant of SLC30A8 (Q8IWU4)
Y18D (p.Tyr18Asp) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
Y18D (p.Tyr18Asp) variant details
- p.Tyr18Asp
- 1000Genomes rs201490156
- ExAC rs201490156
- gnomAD rs201490156
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available