D682N (p.Asp682Asn) variant of FGFR1 (P11362)
D682N (p.Asp682Asn) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D682N (p.Asp682Asn) variant details
- p.Asp682Asn
- rs2150548677
- ClinGen CA370729366
- ClinVar RCV001809020
- Ensembl rs2150548677
- Likely pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.85
- ClinVar: Likely pathogenic (Hartsfield-Bixler-Demyer syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)
- Cited in: FGFR1-Related Hartsfield Syndrome. (PMID 26937548)