D623E (p.Asp623Glu) variant of FGFR1 (P11362)
D623E (p.Asp623Glu) 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 0.77 / 1. The record also includes published literature and structural context.
D623E (p.Asp623Glu) variant details
- p.Asp623Glu
- rs780009859
- ClinGen CA370730581
- ClinVar RCV000625696
- ExAC rs780009859
- Pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Pathogenic (in HRTFDS)
- UniProt: Pathogenic (in HRTFDS)
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: FGFR1-Related Hartsfield Syndrome. (PMID 26937548)