Mutation details:

Protein level identifier (NP_940980):

Ile1991Val

cDNA level identifier (NM_198578):

c.5971A>G

Gene level identifier:

g.143573A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

12:40734122 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

0,53 ± 0,21 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).