I8S (p.Ile8Ser) variant of FGFR2 (P21802)
I8S (p.Ile8Ser) 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; Craniosynostosis syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I8S (p.Ile8Ser) variant details
- p.Ile8Ser
- rs147307031
- ClinGen CA159667
- cosmic curated COSV10590
- ClinVar RCV000121062
- Conflicting interpretations
- FGFR2-related craniosynostosis; Craniosynostosis syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (FGFR2-related craniosynostosis; Craniosynostosis syndrome; not s)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Genetic basis of potential therapeutic strategies for craniosynostosis. (PMID 21082653)