Q89K (p.Gln89Lys) variant of GCH1 (GTP cyclohydrolase 1)
Q89K (p.Gln89Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q89K (p.Gln89Lys) variant details
- p.Gln89Lys
- gnomAD rs1293402606
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.64
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available