Mutation details:

Protein level identifier (NP_940980):

Ile1371Val

cDNA level identifier (NM_198578):

c.4111A>G

Gene level identifier:

g.111875A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

12:40702420

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

0,66 ± 0,32 (not activating)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).