Mutation details:

Protein level identifier (NP_940980):

Arg1441Ser

cDNA level identifier (NM_198578):

c.4321C>A

Gene level identifier:

g.113691C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

12:40704236 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

3,15 ± 0,55 (strongly activating)

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous (6 in total).