Mutation details:

Protein level identifier (NP_000152):

p.Met211Ile

cDNA level identifier (NM_000161):

c.633G>A

Gene level identifier:

g.58716G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55310855 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

7730309; 10582612;

Number of all included cases:

2 homozygous (2 in total).