Mutation details:

Protein level identifier (n.a.):

p.Trp283Ser

cDNA level identifier (n.a.):

c.848G>C

Gene level identifier:

g.14505G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

3:148925338 (not available on ExAC)

Gene name:

CP

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).