D55E (p.Asp55Glu) variant of GNAT1 (P11488)
D55E (p.Asp55Glu) in GNAT1 (P11488) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- ExAC rs776566245
- TOPMed rs776566245
- gnomAD rs776566245
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.28
- CADD 7.58
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available