Mutation details:

Protein level identifier (n.a.):

p.Arg803Ser

cDNA level identifier (n.a.):

c.2407C>A

Gene level identifier:

g.324762C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).