R6C (p.Arg6Cys) variant of FGFR2 (P21802)
R6C (p.Arg6Cys) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FGFR2-related craniosynostosis; Inborn genetic diseases; Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs141724446
- ClinGen CA5721255
- cosmic curated COSV60661
- ClinVar RCV001296997
- Conflicting interpretations
- FGFR2-related craniosynostosis; Inborn genetic diseases; Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (FGFR2-related craniosynostosis; Inborn genetic diseases; Crouzon)
- EBI: Likely benign (in dbSNP:rs3750819)
- UniProt: Likely benign (in dbSNP:rs3750819)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)