C382R (p.Cys382Arg) variant of FGFR2 (P21802)
C382R (p.Cys382Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Beare-Stevenson cutis gyrata syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
C382R (p.Cys382Arg) variant details
- p.Cys382Arg
- rs121913474
- ClinGen CA16602866
- cosmic curated COSV60638
- ClinVar RCV003322768
- Pathogenic/Likely pathogenic
- not provided; Beare-Stevenson cutis gyrata syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.40
- PolyPhen-2 0.16
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (not provided; Beare-Stevenson cutis gyrata syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)