E14D (p.Glu14Asp) variant of GNAT1 (P11488)
E14D (p.Glu14Asp) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- ExAC rs748389570
- TOPMed rs748389570
- gnomAD rs748389570
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available