Details for MTRR:c.1549A>G, p.Thr517Ala

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
78929377892824
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MTRR
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_024010.2
CDNA CHANGE c.1549A>G
PROTEIN CHANGE p.Thr517Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00.0070.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0044780.00073820.00078050.00099210.00.015570.0061450.003750.000588

ESP
AAEA
0.00045390.003721
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.4227None
DBSNP ID rs41283145
1 combination linked to MTRR:c.1549A>G, p.Thr517Ala OLI713
1 disease linked to MTRR:c.1549A>G, p.Thr517Ala Isolated anencephaly
Found any issues with the data on this page? Report this entry.