Mutation details:

Protein level identifier (NP_940980):

Lys616Arg

cDNA level identifier (NM_198578):

c.1847A>G

Gene level identifier:

g.78156A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

12:40668701

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

1,05 ± 0,67 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).