I78M (p.Ile78Met) variant of GCH1 (GTP cyclohydrolase 1)
I78M (p.Ile78Met) in GCH1 (GTP cyclohydrolase 1) 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 0.64 / 1. The record also includes population frequency data and structural context.
I78M (p.Ile78Met) variant details
- p.Ile78Met
- rs747393714
- ClinGen CA7193657
- ClinVar RCV000995178
- ExAC rs747393714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.77
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available