Protein level identifier (NP_004073):
p.Gln74Pro
cDNA level identifier (NM_004082):
c.221A>C
Gene level identifier:
g.14030A>C
Reference, alternative allele:
T, G
Genomic location hg(0)
2:74605185 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Number of all included cases:
2 heterozygous (2 in total).