R7W (p.Arg7Trp) variant of GCH1 (GTP cyclohydrolase 1)
R7W (p.Arg7Trp) 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 0.32 / 1. The record also includes population frequency data and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs1167936240
- ClinGen CA389794903
- ClinVar RCV003233173
- gnomAD rs1167936240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available