Mutation details:

Protein level identifier (n.a.):

p.Ile51Asn

cDNA level identifier (n.a.):

c.152T>A

Gene level identifier:

g.24594T>A

Reference, alternative allele:

A, T

Genomic location

3:33114129 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).