L357S (p.Leu357Ser) variant of FGFR2 (P21802)
L357S (p.Leu357Ser) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L357S (p.Leu357Ser) variant details
- p.Leu357Ser
- rs2134254345
- ClinGen CA378327662
- ClinVar RCV001915790
- ClinVar RCV004538607
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Crouzon syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)