A76D (p.Ala76Asp) variant of SLC37A4 (O43826)
A76D (p.Ala76Asp) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A76D (p.Ala76Asp) variant details
- p.Ala76Asp
- ExAC rs782429783
- TOPMed rs782429783
- gnomAD rs782429783
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available