G49S (p.Gly49Ser) variant of SLC30A8 (Q8IWU4)
G49S (p.Gly49Ser) 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 0.17 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- TOPMed rs1364161992
- gnomAD rs1364161992
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.11
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available