Protein level identifier (n.a.):

p.Pro361Leu

cDNA level identifier (n.a.):

c.1082C>T

Gene level identifier:

g.52586C>T

Reference, alternative allele:

C, T

Genomic location

not available

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous, 1 compound heterozygous (5 in total).