N67K (p.Asn67Lys) variant of GCH1 (GTP cyclohydrolase 1)
N67K (p.Asn67Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
N67K (p.Asn67Lys) variant details
- p.Asn67Lys
- Ensembl rs2040582634
- Uncertain significance
- not provided
- Missense
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available