C342S (p.Cys342Ser) variant of FGFR2 (P21802)
C342S (p.Cys342Ser) 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; Crouzon syndrome; Pfeiffer 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.
C342S (p.Cys342Ser) variant details
- p.Cys342Ser
- rs121918487
- ClinGen CA10575447
- ClinVar RCV000415499
- ClinVar RCV000560038
- Pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS, JWS, PS and ABS2)
- UniProt: Pathogenic (in CS, JWS, PS and ABS2)
- Structural context available
- Cited in: Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (PMID 10633130)
- Cited in: Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). (PMID 11173845)