Mutation details:

Protein level identifier (NP_000152):

p.Leu82Pro

cDNA level identifier (NM_000161):

c.245T>C

Gene level identifier:

g.434T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

14:55369137 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).