Mutation details:

Protein level identifier (NP_000152):

p.Ser81Pro

cDNA level identifier (NM_000161):

c.241T>C

Gene level identifier:

g.430T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

14:55369141 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).