Mutation details:

Protein level identifier (n.a.):

p.Met347Leu

cDNA level identifier (n.a.):

c.1039A>C

Gene level identifier:

g.89383A>C

Reference, alternative allele:

A, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).