E44D (p.Glu44Asp) variant of SLC30A8 (Q8IWU4)
E44D (p.Glu44Asp) 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 0.13 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs143592691
- ClinGen CA4853451
- ClinVar RCV004196155
- ESP rs143592691
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 8.69
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available