Mutation details:

Protein level identifier (n.a.):

p.Thr501Met

cDNA level identifier (n.a.):

c.1502C>T

Gene level identifier:

g.306823C>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:

1 heterozygous, 1 n.a. (2 in total).