Details for KRT14:c.881T>C, p.Met294Thr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
3974005841583806
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KRT14
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000526.4
CDNA CHANGE c.881T>C
PROTEIN CHANGE p.Met294Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.748e-050.00.00.00.00.00.00019340.00.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.780559Disease causing
DBSNP ID rs200836945
1 combination linked to KRT14:c.881T>C, p.Met294Thr OLI250
1 disease linked to KRT14:c.881T>C, p.Met294Thr Epidermolysis bullosa simplex
Found any issues with the data on this page? Report this entry.