Mutation details:

Protein level identifier (NP_060676):

p.Pro316Ser

cDNA level identifier (NM_018206):

c.946C>T

Gene level identifier:

g.14890C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

16:46708541

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

17

Phosphorylation activity:

Positive functional evidence:

25288323; 25533483; 26321632;

Number of all included cases:

3 heterozygous (3 in total).