Details for CELSR3:c.7890G>A, p.Met2630Ile

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
4868255048645117
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001407.2
CDNA CHANGE c.7890G>A
PROTEIN CHANGE p.Met2630Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00320.00.00140.00.0010.0143

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0039340.00012480.0018910.0099960.00.00014050.0017110.0039760.01945

ESP
AAEA
0.00022710.001279
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.105618Polymorphism
DBSNP ID rs149614835
1 combination linked to CELSR3:c.7890G>A, p.Met2630Ile OLI714
1 disease linked to CELSR3:c.7890G>A, p.Met2630Ile Isolated anencephaly
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