G493W (p.Gly493Trp) variant of FGFR2 (P21802)
G493W (p.Gly493Trp) 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.
G493W (p.Gly493Trp) variant details
- p.Gly493Trp
- rs1554917471
- ClinGen CA378323223
- cosmic curated COSV10033
- ClinVar RCV000659648
- Likely pathogenic
- Levy-Hollister syndrome
- Missense
- ClinVar: Likely pathogenic (Levy-Hollister syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available