I78N (p.Ile78Asn) variant of GCH1 (GTP cyclohydrolase 1)
I78N (p.Ile78Asn) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I78N (p.Ile78Asn) variant details
- p.Ile78Asn
- ExAC rs777135030
- TOPMed rs777135030
- gnomAD rs777135030
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available