Mutation details:

Protein level identifier (NP_940980):

Leu2439Ile

cDNA level identifier (NM_198578):

c.7315C>A

Gene level identifier:

g.168232C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

12:40758750 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

0,70 ± 0,19 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).