N85K (p.Asn85Lys) variant of GCH1 (GTP cyclohydrolase 1)
N85K (p.Asn85Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
N85K (p.Asn85Lys) variant details
- p.Asn85Lys
- ExAC rs752645828
- gnomAD rs752645828
- Likely benign
- Missense
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available