R7L (p.Arg7Leu) variant of GCH1 (GTP cyclohydrolase 1)
R7L (p.Arg7Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- TOPMed rs1170513883
- gnomAD rs1170513883
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.33
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available