E534K (p.Glu534Lys) variant of FGFR2 (P21802)
E534K (p.Glu534Lys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Levy-Hollister syndrome. The record also includes structural context.
E534K (p.Glu534Lys) variant details
- p.Glu534Lys
- rs2133975330
- ClinGen CA378321623
- ClinVar RCV002291169
- cosmic curated COSV10441
- Likely pathogenic
- Levy-Hollister syndrome
- Missense
- ClinVar: Likely pathogenic (Levy-Hollister syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available