R6H (p.Arg6His) variant of FGFR2 (P21802)
R6H (p.Arg6His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs3750819
- ClinGen CA5721254
- cosmic curated COSV60653
- ClinVar RCV001766254
- Uncertain significance
- FGFR2-related craniosynostosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- CADD 15.60
- PolyPhen-2 0.09
- SIFT 0.54
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis; not provided)
- EBI: Benign (in dbSNP:rs3750819)
- UniProt: Benign (in dbSNP:rs3750819)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)