G63E (p.Gly63Glu) variant of SLC30A8 (Q8IWU4)
G63E (p.Gly63Glu) 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 0.27 / 1. The record also includes population frequency data and structural context.
G63E (p.Gly63Glu) variant details
- p.Gly63Glu
- 1000Genomes rs150548337
- ESP rs150548337
- ExAC rs150548337
- TOPMed rs150548337
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.05
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available