R7P (p.Arg7Pro) variant of GCH1 (GTP cyclohydrolase 1)
R7P (p.Arg7Pro) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- TOPMed rs1170513883
- gnomAD rs1170513883
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.32
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available