E39D (p.Glu39Asp) variant of GNAT1 (P11488)
E39D (p.Glu39Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- rs34797487
- ClinGen CA352911902
- ClinVar RCV001307134
- 1000Genomes rs34797487
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.42
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available