Details for PRICKLE1:p.Ser739Phe

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
4285389142460089
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PRICKLE1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ser739Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00077210.00030770.00017359.927e-055.437e-050.00041570.0014710.00081540.0

ESP
AAEA
0.00090790.001395
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.829885Disease causing
DBSNP ID rs138452760
1 combination linked to PRICKLE1:p.Ser739Phe OLI685
1 disease linked to PRICKLE1:p.Ser739Phe Holoprosencephaly
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