E84D (p.Glu84Asp) variant of GCH1 (GTP cyclohydrolase 1)
E84D (p.Glu84Asp) in GCH1 (GTP cyclohydrolase 1) 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 0.38 / 1. The record also includes population frequency data and structural context.
E84D (p.Glu84Asp) variant details
- p.Glu84Asp
- TOPMed rs1263510185
- gnomAD rs1263510185
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available