P43S (p.Pro43Ser) variant of SLC37A4 (O43826)
P43S (p.Pro43Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC37A4-related disorder; Inborn genetic diseases; Glucose-6-phosphate transport. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- ExAC rs781846380
- TOPMed rs781846380
- gnomAD rs781846380
- Uncertain significance
- SLC37A4-related disorder; Inborn genetic diseases; Glucose-6-phosphate transport
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 4.30
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (SLC37A4-related disorder; Inborn genetic diseases; Glucose-6-pho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available