Mutation details:

Protein level identifier (n.a.):

p.Tyr248Cys

cDNA level identifier (n.a.):

c.743A>G

Gene level identifier:

g.258633A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).