Mutation details:

Protein level identifier (n.a.):

p.Arg495Trp

cDNA level identifier (n.a.):

c.1483C>T

Gene level identifier:

g.95886C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

20816793;

Number of all included cases:

14 heterozygous (14 in total).