Protein level identifier (NP_060676):
p.Met57Ile
cDNA level identifier (NM_018206):
c.171G>A
Gene level identifier:
g.7412G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
16:46716019 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
19
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).