Details for CD2AP:c.1488G>A, p.Met496Ile

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
4757397147606235
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CD2AP
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_012120.2
CDNA CHANGE c.1488G>A
PROTEIN CHANGE p.Met496Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012750.00012310.00.00.00.00.00025570.03.267e-05

ESP
AAEA
0.00045390.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.168027Polymorphism
DBSNP ID rs143297472
1 combination linked to CD2AP:c.1488G>A, p.Met496Ile OLI320
1 disease linked to CD2AP:c.1488G>A, p.Met496Ile Genetic steroid-resistant nephrotic syndrome
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