Mutation details:

Protein level identifier (n.a.):

p.Tyr1384Cys

cDNA level identifier (n.a.):

c.4151A>G

Gene level identifier:

g.362439A>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:

1 heterozygous (1 in total).