Mutation details:

Protein level identifier (n.a.):

p.Pro316Leu

cDNA level identifier (n.a.):

c.947C>T

Gene level identifier:

g.15071C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

23:19377081 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).