Details for AXL:c.1343G>T, p.Trp448Leu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4174881841242913
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AXL
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_021913.4
CDNA CHANGE c.1343G>T
PROTEIN CHANGE p.Trp448Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00.00990.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00059280.00.00.00.0075570.01.76e-050.00048940.0001633

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.320691Polymorphism
DBSNP ID rs117588892
1 combination linked to AXL:c.1343G>T, p.Trp448Leu OLI902
1 disease linked to AXL:c.1343G>T, p.Trp448Leu Normosmic congenital hypogonadotropic hypogonadism
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