S351C (p.Ser351Cys) variant of FGFR2 (P21802)
S351C (p.Ser351Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
S351C (p.Ser351Cys) variant details
- p.Ser351Cys
- rs121918502
- ClinGen CA122991
- cosmic curated COSV10520
- ClinVar RCV000014208
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.97
- MetaLR 0.45
- MetaSVM -0.15
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Pfeiffer syndrome)
- EBI: Pathogenic (in CS, PS and ABS2)
- UniProt: Pathogenic (in CS, PS and ABS2)
- Structural context available
- Cited in: Patient described by Chun et al. may not present Antley-Bixler syndrome. (PMID 10076886)
- Cited in: Not Antley-Bixler syndrome. (PMID 10076887)