Mutation details:

Protein level identifier (n.a.):

p.Met798Thr

cDNA level identifier (n.a.):

c.2393T>C

Gene level identifier:

g.324748T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).