Details for SOS1:p.Pro340Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3926240939035268
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SOS1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Pro340Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.959e-050.00024630.00.00.00043560.00.00.00.0002614

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.937133Disease causing
DBSNP ID rs190222208
1 combination linked to SOS1:p.Pro340Ser OLI568
2 diseases linked to SOS1:p.Pro340Ser Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy
Found any issues with the data on this page? Report this entry.