R14W (p.Arg14Trp) variant of GCH1 (GTP cyclohydrolase 1)
R14W (p.Arg14Trp) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- gnomAD rs1487411316
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available