G237D (p.Gly237Asp) variant of FGFR1 (P11362)
G237D (p.Gly237Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Encephalocraniocutaneous lipomatosis; Pfeiffer syndrome; Osteoglophonic dysplasi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G237D (p.Gly237Asp) variant details
- p.Gly237Asp
- rs2150859908
- ClinGen CA370735274
- ClinVar RCV003234683
- ClinVar RCV005051277
- Pathogenic/Likely pathogenic
- Encephalocraniocutaneous lipomatosis; Pfeiffer syndrome; Osteoglophonic dysplasi
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Encephalocraniocutaneous lipomatosis; Pfeiffer syndrome; Osteogl)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive… (PMID 16764984)
- Cited in: Encephalocraniocutaneous Lipomatosis. (PMID 35099867)