D336G (p.Asp336Gly) variant of FGFR2 (P21802)
D336G (p.Asp336Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Crouzon syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
D336G (p.Asp336Gly) variant details
- p.Asp336Gly
- rs1057519042
- ClinGen CA16043913
- ClinVar RCV000415483
- Ensembl rs1057519042
- Pathogenic/Likely pathogenic
- Crouzon syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Crouzon syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)