Q114E (p.Gln114Glu) variant of SLC37A4 (O43826)
Q114E (p.Gln114Glu) in SLC37A4 (O43826) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Q114E (p.Gln114Glu) variant details
- p.Gln114Glu
- ExAC rs782313064
- gnomAD rs782313064
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available