D321A (p.Asp321Ala) variant of FGFR2 (P21802)
D321A (p.Asp321Ala) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D321A (p.Asp321Ala) variant details
- p.Asp321Ala
- rs121918510
- ClinGen CA280195
- ClinVar RCV000014227
- ClinVar RCV002513039
- Pathogenic
- FGFR2-related craniosynostosis; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.93
- MetaLR 0.34
- MetaSVM -0.43
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.62
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; Pfeiffer syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- Structural context available
- Cited in: Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for… (PMID 15282208)
- Cited in: FGFR2 mutations in Pfeiffer syndrome. (PMID 7719333)