V28I (p.Val28Ile) variant of FGFR2 (P21802)
V28I (p.Val28Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs1863018890
- ClinGen CA378327893
- ClinVar RCV002597499
- TOPMed rs1863018890
- Uncertain significance
- FGFR2-related craniosynostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.13
- MetaLR 0.28
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.33
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)