P43A (p.Pro43Ala) variant of SLC37A4 (O43826)
P43A (p.Pro43Ala) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, 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 0.11 / 1. The record also includes population frequency data and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- ExAC rs781846380
- TOPMed rs781846380
- gnomAD rs781846380
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 1.96
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available