Mutation details:

Protein level identifier (n.a.):

p.Ala350Asp

cDNA level identifier (n.a.):

c.1049C>A

Gene level identifier:

g.15729C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

3:148924114 (not available on ExAC)

Gene name:

CP

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).