Mutation details:

Protein level identifier (n.a.):

p.His247Arg

cDNA level identifier (n.a.):

c.740A>G

Gene level identifier:

g.81881A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).