Mutation details:

Protein level identifier (n.a.):

p.Thr666Met

cDNA level identifier (n.a.):

c.1997C>T

Gene level identifier:

g.320114C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

CACNA1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

26 heterozygous (26 in total).