Mutation details:

Protein level identifier (n.a.):

p.Thr82Met

cDNA level identifier (n.a.):

c.245C>T

Gene level identifier:

g.24687C>T

Reference, alternative allele:

G, A

Genomic location

3:33114036 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

8198123;

Number of all included cases:

2 compound heterozygous (2 in total).