G487D (p.Gly487Asp) variant of FGFR1 (P11362)
G487D (p.Gly487Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G487D (p.Gly487Asp) variant details
- p.Gly487Asp
- rs515726224
- ClinGen CA269807
- ClinVar RCV000119059
- ClinVar RCV000591024
- Pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: FGFR1-Related Hartsfield Syndrome. (PMID 26937548)