G7S (p.Gly7Ser) variant of SLC37A4 (O43826)
G7S (p.Gly7Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- TOPMed rs914854883
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 17.90
- PolyPhen-2 0.13
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available