Protein level identifier (NP_001073136):
p.Pro232Leu
cDNA level identifier (NM_001079668):
c.695C>T
Gene level identifier:
g.3361C>T
Archive identifier/Other designation:
P202L
Reference, alternative allele:
G, A
Genomic location hg(19)
14:36986994 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).