E11D (p.Glu11Asp) variant of GCH1 (GTP cyclohydrolase 1)
E11D (p.Glu11Asp) 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 0.34 / 1. The record also includes population frequency data and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- 1000Genomes rs2140127730
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.41
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available