C342R (p.Cys342Arg) variant of FGFR2 (P21802)
C342R (p.Cys342Arg) 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; Antley-Bixler syndrome without gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C342R (p.Cys342Arg) variant details
- p.Cys342Arg
- rs121918488
- ClinGen CA256745
- ClinVar RCV000014177
- ClinVar RCV000014178
- Pathogenic
- FGFR2-related craniosynostosis; not provided; Antley-Bixler syndrome without gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.94
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; not provided; Antley-Bixler synd)
- EBI: Pathogenic (in CS, JWS, PS and ABS2)
- UniProt: Pathogenic (in CS, JWS, PS and ABS2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)